chr2:135851079:A>G Detail (hg38) (MCM6)

Information

Genome

Assembly Position
hg19 chr2:136,608,649-136,608,649 View the variant detail on this assembly version.
hg38 chr2:135,851,079-135,851,079

HGVS

Type Transcript Protein
RefSeq NM_005915.5:c.1917+323T>C
Ensemble ENST00000264156.3:c.1917+323T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Uncertain significance
Review star
Show details
Links
Type Database ID Link
Gene MIM 601806 OMIM
HGNC 6949 HGNC
Ensembl ENSG00000076003 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv311596040 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance no assertion criteria provided Lactase persistence germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_005915.6(MCM6):c.1917+323T>C AND Lactase persistence ClinVar Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
Genome
hg38
Position
chr2:135,851,079-135,851,079
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Genome browser