chr3:37090470:C>T Detail (hg19) (MLH1)

Information

Genome

Assembly Position
hg19 chr3:37,090,470-37,090,470
hg38 chr3:37,048,979-37,048,979 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001258271.1:c.1896+1296C>T
NM_001258274.1:c.1342C>T NP_001245203.1:p.Gln448Ter
NM_001167618.1:c.1342C>T NP_001161090.1:p.Gln448Ter
Summary

MGeND

Clinical significance not provided
Variant entry 1
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 COSM6978768 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided bronchus or lung, unspecified not provided MGS000042
(TMGS000093)
Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2014-07-01 criteria provided, single submitter not provided germline Detail
Pathogenic 2023-08-20 criteria provided, single submitter Hereditary nonpolyposis colorectal neoplasms germline Detail
Pathogenic 2018-07-02 criteria provided, single submitter Lynch syndrome unknown Detail
Pathogenic 2019-09-30 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2023-07-25 criteria provided, single submitter Colorectal cancer, hereditary nonpolyposis, type 2 unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.121 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000249.4(MLH1):c.2065C>T (p.Gln689Ter) AND not provided ClinVar Detail
NM_000249.4(MLH1):c.2065C>T (p.Gln689Ter) AND Hereditary nonpolyposis colorectal neoplasms ClinVar Detail
NM_000249.4(MLH1):c.2065C>T (p.Gln689Ter) AND Lynch syndrome ClinVar Detail
NM_000249.4(MLH1):c.2065C>T (p.Gln689Ter) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000249.4(MLH1):c.2065C>T (p.Gln689Ter) AND Colorectal cancer, hereditary nonpolyposis, type 2 ClinVar 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
rs41542214 dbSNP
Genome
hg19
Position
chr3:37,090,470-37,090,470
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser