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Results for "SALL1"

Variant Events: 37

Gene
Gene symbol on which the variant is located
ID
Subject Identifier from the original study
Location
Genomic location of the reference allele
REF
Reference allele
ALT
Alternate allele
Context
Variant functional categories
Variant validation performed by an orthogonal method and reported
Inheritance
Reported inheritance status
Effects
Variant effect on transcript per Annovar
Transcript
Transcript used for the cDNA/Protein mutation
cDNA
cDNA variant notation
Protein
Protein variant notation
CADD-Phred v1.0
CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores
ExAC v0.3
ExAC population frequency (version 0.3)
Sources
Source(s) where variants from this event are reported
SALL1     1-0296-003chr16:
51260275-51260275
GCintergenicDe novo--Yuen2017 G
SALL1     2-1066-004chr16:
51319412-51319412
AACintergenicDe novo--Yuen2017 G
SALL1     2-1235-004chr16:
51388456-51388456
TCintergenicDe novo--Yuen2017 G
SALL1     AU3190305chr16:
51173325-51173325
CTexonicDe novosynonymous SNVNM_001127892
NM_002968
c.G2517A
c.G2808A
p.Q839Q
p.Q936Q
-1.651E-5Yuen2017 G
SALL1     5-0147-003chr16:
51441630-51441630
GCintergenicDe novo--Yuen2017 G
SALL1     2-0304-004chr16:
51644601-51644601
GTintergenicDe novo--Yuen2017 G
SALL1     2-1380-003chr16:
51467708-51467708
GCintergenicDe novo--Yuen2016 G
Yuen2017 G
SALL1     AU051503chr16:
51508362-51508362
GCintergenicDe novo--Yuen2017 G
SALL1     1-0148-005chr16:
51372156-51372157
CACintergenicDe novo--Yuen2017 G
SALL1     AU2140305chr16:
51476093-51476093
AGintergenicDe novo--Yuen2017 G
SALL1     3-0458-000Achr16:
51334779-51334793
TTGTGTGTGTGTGTGTTGTGTGTGTGTGintergenicDe novo--Yuen2017 G
SALL1     AU3849302chr16:
51174770-51174770
CTexonicDe novononsynonymous SNVNM_001127892
NM_002968
c.G1072A
c.G1363A
p.A358T
p.A455T
24.11.647E-5Yuen2017 G
SALL1     2-1215-003chr16:
51447279-51447279
AAGGAGGGTintergenicDe novo--Yuen2017 G
SALL1     1-0439-003chr16:
51403346-51403346
ACintergenicDe novo--Yuen2016 G
Yuen2017 G
SALL1     187-13717chr16:
51175657-51175659
CTGCexonicframeshift deletionNM_001127892
NM_002968
c.183_184del
c.474_475del
p.S61fs
p.S158fs
-5.887E-5Callaghan2019 G
SALL1     GEA486chr16:
51175566-51175566
GAexonicDe novosynonymous SNVNM_001127892
NM_002968
c.C276T
c.C567T
p.S92S
p.S189S
-8.237E-6Fu2022 E
SALL1     AU006804chr16:
51452003-51452003
GCintergenicDe novo--Yuen2017 G
SALL1     2-0309-005chr16:
51398967-51398967
CTintergenicDe novo--Yuen2017 G
SALL1     1-0299-004chr16:
51761734-51761734
TAintergenicDe novo--Yuen2017 G
SALL1     SP0007992chr16:
51172595-51172595
GTexonicDe novononsynonymous SNVNM_001127892
NM_002968
c.C3247A
c.C3538A
p.H1083N
p.H1180N
--Fu2022 E
SALL1     SP0089039chr16:
51185127-51185127
GCexonicDe novononsynonymous SNVNM_002968c.C26Gp.P9R15.05-Fu2022 E
SALL1     2-0070-004chr16:
51546012-51546012
CTintergenicDe novo--Yuen2017 G
SALL1     AU3907301chr16:
51726228-51726228
CTintergenicDe novo--Yuen2017 G
SALL1     AU4235301chr16:
51293554-51293554
TGintergenicDe novo--Yuen2017 G
SALL1     1-0353-003chr16:
51738905-51738907
CATCintergenicDe novo--Yuen2017 G
SALL1     AU4235301chr16:
51424940-51424940
GAintergenicDe novo--Yuen2017 G
SALL1     2-1346-003chr16:
51688922-51688922
GCintergenicDe novo--Yuen2017 G
SALL1     2-0045-003chr16:
51401094-51401094
TCintergenicDe novo--Yuen2016 G
Yuen2017 G
SALL1     AU038204chr16:
51379825-51379825
GAintergenicDe novo--Yuen2017 G
SALL1     AU2485305chr16:
51481207-51481211
GAAAAGAAAAAintergenicDe novo--Yuen2017 G
SALL1     1-1000-003chr16:
51335747-51335747
AGintergenicDe novo--Yuen2017 G
SALL1     2-1427-003chr16:
51314798-51314798
CTintergenicDe novo--Yuen2017 G
SALL1     13649.p1chr16:
51227601-51227601
GAintergenicDe novo--Turner2016 G
SALL1     1-0344-003chr16:
51286133-51286133
TAintergenicDe novo--Yuen2017 G
SALL1     AU011903chr16:
51428947-51428947
CTintergenicDe novo--Yuen2017 G
SALL1     7-0055-003chr16:
51666107-51666107
GAintergenicDe novo--Yuen2017 G
SALL1     AU3638302chr16:
51186261-51186261
GAintergenicDe novo--Yuen2017 G
Source Variant Information

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Source:

Paper alias:

No records found.
Paper Information
Title
Authors
Technology
Variant source
Cohorts
Design
URL
Pubmed
Subject count
The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count
Curation notesView
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