RECQL4 E267D - 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:

(See the latest version)

RECQL4 E267D

(RECQL4 Glu267Asp)


You are viewing an old version of this page that was saved on November 29, 2012 at 3:04am by Genome Importing Robot.

Short summary

 

Variant evidence
Computational 1

Variant Effect Predictor (Ensembl ):
SIFT=tolerated(0.08);
PolyPhen=possibly_damaging(0.301);
Condel=deleterious(0.618)
Mutation Tasting prediction: Polymorphism p value: 0.995311; protein features (might be) affected.
GVGD: GV 126.69; GD 44.60; Class C0
Multi-alignment of O94761.1 ATP-dependent DNA helicase Q4 [Homo sapiens] with:
XP_520023.2 [Pan troglodytes] XP_002819610.1 [Pongo abelii] XP_002759208.1 [Callithrix jacchus] XP_001495523.2 [Equus caballus] XP_003125481.1 [Sus scrofa] XP_003125487.1 [Sus scrofa] NP_478121.2 [Mus musculus] AAI31657.1 [Mus musculus] Q75NR7.2 [Mus musculus]

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

  • G @ chr8:145741702: 38.7% (3856/9956) in EVS
  • G @ chr8:145712509: 34.7% (43/124) in GET-Evidence
  • Frequency shown in summary reports: 38.7% (3856/9956)

Publications
 

Genomes
 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het G @ chr8:145741702

 

 

 

 

 

hu43860C

 

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het G @ chr8:145741702

 

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het G @ chr8:145741702

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
hom G @ chr8:145741702

 

Added in this revision:

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
hom G @ chr8:145741702

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het G @ chr8:145741702

 

GS07357 - var-GS07357-1100-36-ASM
het G @ chr8:145712510

 

GS10851 - var-GS10851-1100-36-ASM
het G @ chr8:145712510

 

GS12004 - var-GS12004-1100-36-ASM
het G @ chr8:145712510

 

GS18501 - var-GS18501-1100-36-ASM
het G @ chr8:145712510

 

GS18502 - var-GS18502-1100-36-ASM
het G @ chr8:145712510

 

GS18504 - var-GS18504-1100-36-ASM
hom G @ chr8:145712510

 

GS18505 - var-GS18505-1100-36-ASM
het G @ chr8:145712510

 

GS18517 - var-GS18517-1100-36-ASM
hom G @ chr8:145712510

 

GS18526 - var-GS18526-1100-36-ASM
hom G @ chr8:145712510

 

GS18555 - var-GS18555-1100-36-ASM
het G @ chr8:145712510

 

GS18940 - var-GS18940-1100-36-ASM
het G @ chr8:145712510

 

GS18947 - var-GS18947-1100-36-ASM
het G @ chr8:145712510

 

GS18956 - var-GS18956-1100-36-ASM
hom G @ chr8:145712510

 

GS19017 - var-GS19017-1100-36-ASM
het G @ chr8:145712510

 

GS19129 - var-GS19129-1100-36-ASM
hom G @ chr8:145712510

 

GS19238 - var-GS19238-1100-36-ASM
het G @ chr8:145712510

 

GS19239 - var-GS19239-1100-36-ASM
het G @ chr8:145712510

 

GS19648 - var-GS19648-1100-36-ASM
het G @ chr8:145712510

 

GS19669 - var-GS19669-1100-36-ASM
het G @ chr8:145712510

 

GS19700 - var-GS19700-1100-36-ASM
het G @ chr8:145712510

 

GS19703 - var-GS19703-1100-36-ASM
hom G @ chr8:145712510

 

GS19704 - var-GS19704-1100-36-ASM
het G @ chr8:145712510

 

Other external references
 

    dbSNP
  • rs4244612
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the RECQL4 gene
    Baller-Gerold Syndrome
    Rapadilino Syndrome
    RECQL4-Related Disorders
    Rothmund-Thomson Syndrome
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/RECQL4
    Web search results (0 hits -- see all)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in