chr3:36993651:TG>AC Detail (hg38) (MLH1)

Information

Genome

Assembly Position
hg19 chr3:37,035,142-37,035,143 View the variant detail on this assembly version.
hg38 chr3:36,993,651-36,993,652

HGVS

Type Transcript Protein
RefSeq NM_000249.3:c.104_105delinsAC NP_000240.1:p.Met35Asn
NM_001258271.1:c.104_105delinsAC NP_001245200.1:p.Met35Asn
NM_001258273.1:c.-529_-528delinsAC
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
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
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2007-06-01 no assertion criteria provided Mismatch repair cancer syndrome 1 germline Detail
Pathogenic 2007-06-01 no assertion criteria provided Colorectal cancer, hereditary nonpolyposis, type 2 germline Detail
Pathogenic 2013-09-05 reviewed by expert panel Lynch syndrome germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.492 Turcot syndrome (disorder) NA CLINVAR Detail
0.440 Hereditary Non-Polyposis Colon Cancer Type 2 NA CLINVAR Detail
0.329 Hereditary Nonpolyposis Colorectal Cancer NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000249.4(MLH1):c.104_105delinsAC (p.Met35Asn) AND Mismatch repair cancer syndrome 1 ClinVar Detail
NM_000249.4(MLH1):c.104_105delinsAC (p.Met35Asn) AND Colorectal cancer, hereditary nonpolyposis, typ... ClinVar Detail
NM_000249.4(MLH1):c.104_105delinsAC (p.Met35Asn) AND Lynch syndrome ClinVar Detail
NA DisGeNET Detail
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
rs121912965 dbSNP
Genome
hg38
Position
chr3:36,993,651-36,993,652
Variant Type
snv
Reference Allele
TG
Alternative Allele
AC
Genome browser