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!


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(RECQL4 Glu267Asp)

You are viewing an old version of this page that was saved on November 29, 2012 at 3:55am by Genome Importing Robot.

Short summary


Variant evidence
Computational 1

Variant Effect Predictor (Ensembl ):
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 -


Insufficiently evaluated not reviewed

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

Inheritance pattern


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)



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



hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het G @ chr8:145741702




hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
hom G @ chr8:145741702






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:

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het G @ chr8:145741702


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

  • rs4244612
  • GeneTests records for the RECQL4 gene
    Baller-Gerold Syndrome
    Rapadilino Syndrome
    RECQL4-Related Disorders
    Rothmund-Thomson Syndrome
    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":

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