chr6:100420903:G>A Detail (hg38) (SIM1, SIM1-AS1)

Information

Genome

Assembly Position
hg19 chr6:100,868,779-100,868,779 View the variant detail on this assembly version.
hg38 chr6:100,420,903-100,420,903

HGVS

Type Transcript Protein
RefSeq NM_005068.2:c.1054C>T NP_005059.2:p.Pro352Ser
Ensemble ENST00000262901.4:c.1054C>T ENST00000262901.4:p.Pro352Ser
ENST00000369208.8:c.1054C>T ENST00000369208.8:p.Pro352Ser
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Uncertain significance
Review star
Show details
Links
Type Database ID Link
Gene MIM 603128 OMIM
HGNC 10882 HGNC
Ensembl ENSG00000112246 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2017-04-28 criteria provided, single submitter Obesity due to SIM1 deficiency germline Detail
Uncertain significance 2023-12-13 criteria provided, single submitter SIM1-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 obesity A nominal evidence of association was found for the nonsynonymous variant P352T ... BeFree 20075856 Detail
<0.001 Language Disorders Firstly, we found a statistically significant association between the SIM1 SNP r... BeFree 24635660 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_005068.3(SIM1):c.1054C>T (p.Pro352Ser) AND Obesity due to SIM1 deficiency ClinVar Detail
NM_005068.3(SIM1):c.1054C>T (p.Pro352Ser) AND SIM1-related disorder ClinVar Detail
A nominal evidence of association was found for the nonsynonymous variant P352T C/A (rs3734354) (P =... DisGeNET Detail
Firstly, we found a statistically significant association between the SIM1 SNP rs3734354 (Pro352Thr)... 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
-
dbSNP
rs3734354 dbSNP
Genome
hg38
Position
chr6:100,420,903-100,420,903
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8546
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
119888
Allele Counts in All Race (ExAC)
19
Heterozygous Counts in All Race (ExAC)
17
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.5848124916588817E-4
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