SIX6 H141N - GET-Evidence

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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.

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Curation:
Currentness:

SIX6 H141N

(SIX6 His141Asn)


Short summary

 

Variant evidence
Computational 3

Variant Effect Predictor (Ensembl ):
SIFT=tolerated(0.81);
PolyPhen=benign(0);
Condel=neutral(0.143)
Mutation Tasting Prediction: Disease causing, p value: 0.999646; protein features (might be) affected (Detail: aa 128-187 DNA_BIND Homeobox gets lost)
GVGD: GV 68.35; GD 0.00; Class C0
Multi-alignment of O95475.2 homeobox protein SIX6 [Homo sapiens] with: XP_522870.3 [Pan troglodytes] XP_003267813.1 [Nomascus leucogenys] XP_002807285.1 [Callithrix jacchus] XP_002719589.1 [Oryctolagus cuniculus] XP_001094228.1 [Macaca mulatta] XP_547840.2 [Canis familiaris] CAA09775.1[Mus musculus] XP_001369291.1 [Monodelphis domestica] NP_035514.1 [Mus musculus] NP_001155330.1 [Ovis aries]

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

  • A @ chr14:60976537: 43.4% (4670/10756) in EVS
  • A @ chr14:60046289: 33.6% (41/122) in GET-Evidence
  • Frequency shown in summary reports: 43.4% (4670/10756)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het A @ chr14:60976537

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
hom A @ chr14:60976537

 

hu232307 - PGP14 (hu232307) build 36, substitution variants, hu232307 build 36 substitution variants
het A @ chr14:60046290

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het A @ chr14:60976537

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
hom A @ chr14:60976537

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het A @ chr14:60976537

 

hu3215A7 - PGP12 (hu3215A7) build 36, substitution variants, hu3215A7 build 36 substitution variants
het A @ chr14:60046290

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het A @ chr14:60976537

 

hu34D5B9 - CGI sample GS01173-DNA_C07 from PGP sample 92161424, hu34D5B9 exome
hom A @ chr14:60976537

 

hu3A8D13 - PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16), CGI sample GS000003289
hom A @ chr14:60976537

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het A @ chr14:60976537

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
hom A @ chr14:60976537

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
hom A @ chr14:60976537

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het A @ chr14:60976537

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het A @ chr14:60976537

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het A @ chr14:60976537

 

hu728FFF - PGP11 (hu728FFF) build 36, substitution variants, hu728FFF build 36 substitution variants
het A @ chr14:60046290

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
hom A @ chr14:60976537

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
hom A @ chr14:60976537

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het A @ chr14:60976537

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
hom A @ chr14:60976537

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het A @ chr14:60976537

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het A @ chr14:60976537

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
hom A @ chr14:60976537

 

huA90CE6 - PGP16 (huA90CE6) build 37, from CGI var (software ver 2.0.2.11), CGI sample GS000006909
het A @ chr14:60976537

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
hom A @ chr14:60976537

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
hom A @ chr14:60976537

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
hom A @ chr14:60976537

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het A @ chr14:60976537

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het A @ chr14:60976537

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het A @ chr14:60976537

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
hom A @ chr14:60976537

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het A @ chr14:60976537

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het A @ chr14:60976537

 

GS06985 - var-GS06985-1100-36-ASM
het A @ chr14:60046290

 

GS06994 - var-GS06994-1100-36-ASM
hom A @ chr14:60046290

 

GS07357 - var-GS07357-1100-36-ASM
het A @ chr14:60046290

 

GS12004 - var-GS12004-1100-36-ASM
het A @ chr14:60046290

 

GS18504 - var-GS18504-1100-36-ASM
het A @ chr14:60046290

 

GS18555 - var-GS18555-1100-36-ASM
hom A @ chr14:60046290

 

GS18956 - var-GS18956-1100-36-ASM
het A @ chr14:60046290

 

GS19648 - var-GS19648-1100-36-ASM
het A @ chr14:60046290

 

GS19649 - var-GS19649-1100-36-ASM
hom A @ chr14:60046290

 

GS19669 - var-GS19669-1100-36-ASM
het A @ chr14:60046290

 

GS19670 - var-GS19670-1100-36-ASM
het A @ chr14:60046290

 

GS19735 - var-GS19735-1100-36-ASM
hom A @ chr14:60046290

 

GS20502 - var-GS20502-1100-36-ASM
hom A @ chr14:60046290

 

GS20509 - var-GS20509-1100-36-ASM
het A @ chr14:60046290

 

Other external references
 

    dbSNP
  • rs33912345
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.008 (benign)
    Web search results (0 hits -- see all)

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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