chr3:36993659:A>G Detail (hg38) (MLH1)

Information

Genome

Assembly Position
hg19 chr3:37,035,150-37,035,150 View the variant detail on this assembly version.
hg38 chr3:36,993,659-36,993,659

HGVS

Type Transcript Protein
RefSeq NM_000249.3:c.112A>G NP_000240.1:p.Asn38Asp
NM_001258271.1:c.112A>G NP_001245200.1:p.Asn38Asp
NM_001258273.1:c.-521A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 120436 OMIM
HGNC 7127 HGNC
Ensembl ENSG00000076242 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
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.121 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
0.329 Hereditary Nonpolyposis Colorectal Cancer NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NA DisGeNET Detail
NA 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
rs63750580 dbSNP
Genome
hg38
Position
chr3:36,993,659-36,993,659
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Genome browser