ITGB4 L1779P - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

ITGB4 L1779P

(ITGB4 Leu1779Pro)


Short summary

 

Variant evidence
Computational 3

PolyPhen: Benign, score 0.000
SIFT: Affect protein function 0.00
GVGD: GV 0.00; GD 97.78; Class C65
Variant Effect Predictor (Ensembl ):
SIFT=tolerated(0.06);
PolyPhen=probably_damaging(0.959);
Condel=deleterious(0.951)
Mutation Tasting Prediction: Polymorphism, P value: 0.860467; protein features (might be) affected (aa 734-1822 TOPO_DOM Cytoplasmic (potential) gets lost; aa 1777-1777 CONFLICT Missing (in Ref. 5; CAB61345) might get lost (downstream of altered splice site)

Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • C @ chr17:73753503: 60.4% (6497/10754) in EVS
  • C @ chr17:71265097: 56.2% (72/128) in GET-Evidence
  • Frequency shown in summary reports: 60.4% (6497/10754)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het C @ chr17:73753503

 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
hom C @ chr17:73753503

 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het C @ chr17:73753503

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het C @ chr17:73753503

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
hom C @ chr17:73753503

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
hom C @ chr17:73753503

 

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
hom C @ chr17:73753503

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het C @ chr17:73753503

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het C @ chr17:73753503

 

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
hom C @ chr17:73753503

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
hom C @ chr17:73753503

 

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
hom C @ chr17:73753503

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
hom C @ chr17:73753503

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
hom C @ chr17:73753503

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
hom C @ chr17:73753503

 

 

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het C @ chr17:73753503

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
hom C @ chr17:73753503

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het C @ chr17:73753503

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
hom C @ chr17:73753503

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het C @ chr17:73753503

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het C @ chr17:73753503

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het C @ chr17:73753503

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het C @ chr17:73753503

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
hom C @ chr17:73753503

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
hom C @ chr17:73753503

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
hom C @ chr17:73753503

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het C @ chr17:73753503

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het C @ chr17:73753503

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het C @ chr17:73753503

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het C @ chr17:73753503

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
hom C @ chr17:73753503

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
hom C @ chr17:73753503

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
hom C @ chr17:73753503

 

GS06985 - var-GS06985-1100-36-ASM
hom C @ chr17:71265098

 

GS06994 - var-GS06994-1100-36-ASM
hom C @ chr17:71265098

 

GS07357 - var-GS07357-1100-36-ASM
het C @ chr17:71265098

 

GS10851 - var-GS10851-1100-36-ASM
hom C @ chr17:71265098

 

GS12004 - var-GS12004-1100-36-ASM
hom C @ chr17:71265098

 

GS18501 - var-GS18501-1100-36-ASM
het C @ chr17:71265098

 

GS18504 - var-GS18504-1100-36-ASM
het C @ chr17:71265098

 

GS18508 - var-GS18508-1100-36-ASM
het C @ chr17:71265098

 

GS18526 - var-GS18526-1100-36-ASM
het C @ chr17:71265098

 

GS18537 - var-GS18537-1100-36-ASM
het C @ chr17:71265098

 

GS18555 - var-GS18555-1100-36-ASM
hom C @ chr17:71265098

 

GS18558 - var-GS18558-1100-36-ASM
hom C @ chr17:71265098

 

GS18940 - var-GS18940-1100-36-ASM
hom C @ chr17:71265098

 

GS18942 - var-GS18942-1100-36-ASM
hom C @ chr17:71265098

 

GS18947 - var-GS18947-1100-36-ASM
het C @ chr17:71265098

 

GS18956 - var-GS18956-1100-36-ASM
het C @ chr17:71265098

 

GS19017 - var-GS19017-1100-36-ASM
het C @ chr17:71265098

 

GS19025 - var-GS19025-1100-36-ASM
het C @ chr17:71265098

 

GS19648 - var-GS19648-1100-36-ASM
hom C @ chr17:71265098

 

GS19649 - var-GS19649-1100-36-ASM
hom C @ chr17:71265098

 

GS19669 - var-GS19669-1100-36-ASM
hom C @ chr17:71265098

 

GS19670 - var-GS19670-1100-36-ASM
het C @ chr17:71265098

 

GS19701 - var-GS19701-1100-36-ASM
het C @ chr17:71265098

 

GS19735 - var-GS19735-1100-36-ASM
hom C @ chr17:71265098

 

GS20502 - var-GS20502-1100-36-ASM
hom C @ chr17:71265098

 

GS20509 - var-GS20509-1100-36-ASM
hom C @ chr17:71265098

 

Other external references
 

    dbSNP
  • rs871443
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the ITGB4 gene
    Epidermolysis Bullosa with Pyloric Atresia
    ITGB4-Related Epidermolysis Bullosa with Pyloric Atresia
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ITGB4
    Web search results (0 hits -- see all)

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in