SALL1 V1275I - GET-Evidence

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

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SALL1 V1275I

(SALL1 Val1275Ile)

Short summary


Variant evidence
Computational 2

Variant Effect Predictor (Ensembl ):
Mutation Tasting Prediction: Polymorphism p value: 0.999999; protein features (might be) affected (CONFLICTV -> I (in Ref. 1; CAB41400/CAB41399) gets lost)
GVGD: GV 28.68; GD 0.00; Class C0
Multi-alignment of Q9NSC2.2 sal-like protein 1 isoform a [Homo sapiens] with: XP_002760990.1 [Callithrix jacchus] XP_528651.3 [Pan troglodytes] XP_001371744.1 [Monodelphis domestica] Q9ER74.1 [Mus musculus] NP_001100885.2 [Rattus norvegicus] NP_067365.2 [Mus musculus] BAB55673.1[Mus musculus] XP_544410.2 [Canis familiaris] XP_001492150.2 [Equus caballus] XP_003127035.1 [Sus scrofa]

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

  • T @ chr16:51171175: 98.8% (10633/10758) in EVS
  • Frequency shown in summary reports: 98.8% (10633/10758)



hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
hom T @ chr16:51171175


hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
hom T @ chr16:51171175


hu034DB1 - CGI sample GS00253-DNA_A02_200_37
hom T @ chr16:51171175


hu04FD18 - CGI sample GS00253-DNA_F01_200_37
hom T @ chr16:51171175


hu0D879F - CGI sample GS00253-DNA_G01_200_37
hom T @ chr16:51171175


hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
hom T @ chr16:51171175


hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
hom T @ chr16:51171175


hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
hom T @ chr16:51171175


hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
hom T @ chr16:51171175


hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
hom T @ chr16:51171175



hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
hom T @ chr16:51171175



hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
hom T @ chr16:51171175


hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
hom T @ chr16:51171175


hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
hom T @ chr16:51171175


hu43860C - CGI sample GS00253-DNA_A01_200_37
hom T @ chr16:51171175


hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
hom T @ chr16:51171175


hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
hom T @ chr16:51171175


hu604D39 - CGI sample GS00253-DNA_B02_200_37
hom T @ chr16:51171175



hu728FFF - PGP11 (hu728FFF) build 36, substitution variants
hom T @ chr16:49728676


hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
hom T @ chr16:51171175


hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
hom T @ chr16:51171175


hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
hom T @ chr16:51171175


hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
hom T @ chr16:51171175


hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
hom T @ chr16:51171175


hu9385BA - CGI sample GS00253-DNA_E01_200_37
hom T @ chr16:51171175


huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
hom T @ chr16:51171175



huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
hom T @ chr16:51171175


huAE6220 - CGI sample GS00253-DNA_H01_200_37
hom T @ chr16:51171175


huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
hom T @ chr16:51171175


huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
hom T @ chr16:51171175


huBEDA0B - CGI sample GS00253-DNA_C01_200_37
hom T @ chr16:51171175


huC30901 - CGI sample GS00253-DNA_B01_200_37
hom T @ chr16:51171175


huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
hom T @ chr16:51171175


huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
hom T @ chr16:51171175


huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
hom T @ chr16:51171175


huE80E3D - CGI sample GS00253-DNA_D01_200_37
hom T @ chr16:51171175


huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
hom T @ chr16:51171175


huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
hom T @ chr16:51171175


Other external references

  • rs4614723
    Web search results (5 hits -- see all)
  • Genetic screening of 202 individuals with congenital limb ...
    GLI3, HOXD13, ROR2, TBX5, SALL1 and SALL4 (MLPA probe sets P179 and P180, ... chromosome abnormalities, and single mutations in ESCO2 and SALL1) was made ...
  • AceView: Gene:SALL1, a comprehensive annotation of human ...
    AceView offers a comprehensive annotation of human, mouse and nematode genes reconstructed by co-alignment and clustering of all publicly available mRNAs and ESTs on ...
  • view web only data 246 KB
    Murine Sall1 has Gly at equivalent position. 1. 3823G>A. V1275I. rs4614723. 1. 3872A>G. N1291S ... 13 serines for the polyserine tract in exon 2 of SALL1 (S150 to S158) ...

Other in silico analyses

  • NBLOSUM100 score = –4
  • GET-Evidence autoscore = 3

Edit history

Gene search

"GENE" or "GENE A123C":

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