chr8:118184784:G>A Detail (hg19) (SLC30A8)

Information

Genome

Assembly Position
hg19 chr8:118,184,784-118,184,784
hg38 chr8:117,172,545-117,172,545 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001172813.1:c.827G>A NP_001166284.1:p.Arg276Gln
NM_001172815.2:c.827G>A NP_001166286.1:p.Arg276Gln
NM_173851.2:c.974G>A NP_776250.2:p.Arg325Gln
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.049
ToMMo:0.045
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.080

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 611145 OMIM
HGNC 20303 HGNC
Ensembl ENSG00000164756 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv34460094 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2019-09-24 criteria provided, single submitter SLC30A8-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.340 Diabetes Mellitus, Non-Insulin-Dependent Association analysis of SLC30A8 rs13266634 and rs16889462 polymorphisms with typ... BeFree 20809084 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_173851.3(SLC30A8):c.974G>A (p.Arg325Gln) AND SLC30A8-related disorder ClinVar Detail
Association analysis of SLC30A8 rs13266634 and rs16889462 polymorphisms with type 2 diabetes mellitu... DisGeNET Detail

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
chr8:118,184,784-118,184,784
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
167.28
Standard deviation of sample read depth (HGVD)
78.15
Number of reference allele (HGVD)
2301
Number of alternative allele (HGVD)
119
Allele Frequency (HGVD)
0.049173553719008264
Gene Symbol (HGVD)
SLC30A8
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs16889462
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0449
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
753
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8630
East Asian Allele Counts (ExAC)
694
East Asian Heterozygous Counts (ExAC)
620
East Asian Homozygous Counts (ExAC)
37
East Asian Allele Frequency (ExAC)
0.08041714947856315
Chromosome Counts in All Race (ExAC)
121278
Allele Counts in All Race (ExAC)
1975
Heterozygous Counts in All Race (ExAC)
1773
Homozygous Counts in All Race (ExAC)
101
Allele Frequency in All Race (ExAC)
0.016284899157308002
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