chr16:51171287:A>G Detail (hg19) (SALL1)

Information

Genome

Assembly Position
hg19 chr16:51,171,287-51,171,287
hg38 chr16:51,137,376-51,137,376 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_002968.2:c.3711T>C NP_002959.2:p.Tyr1237=
NM_001127892.1:c.3711T>C NP_001121364.1:p.Tyr1237=
Ensemble ENST00000570206.2:c.3420T>C ENST00000570206.2:p.Tyr1140=
Summary

MGeND

Clinical significance Benign
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.006
ToMMo:0.006
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.002

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 602218 OMIM
HGNC 10524 HGNC
Ensembl ENSG00000103449 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv55482669 TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Benign Centenarian germline MGS000068
(TMGS000151) 		Kenjiro Kosaki Keio University
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
Genome
hg19
Position
chr16:51,171,287-51,171,287
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
122.99
Standard deviation of sample read depth (HGVD)
58.20
Number of reference allele (HGVD)
2405
Number of alternative allele (HGVD)
15
Allele Frequency (HGVD)
0.006198347107438017
Gene Symbol (HGVD)
SALL1
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
VQSRTrancheSNP99.60to99.80
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs3743768
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.006
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
101
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8652
East Asian Allele Counts (ExAC)
17
East Asian Heterozygous Counts (ExAC)
17
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0019648636153490524
Chromosome Counts in All Race (ExAC)
121396
Allele Counts in All Race (ExAC)
17
Heterozygous Counts in All Race (ExAC)
17
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.4003756301690336E-4
Genome browser