chr6:156777955:C>G Detail (hg38) (ARID1B, LOC115308161, LOC129997523)

Information

Genome

Assembly Position
hg19 chr6:157,099,089-157,099,089 View the variant detail on this assembly version.
hg38 chr6:156,777,955-156,777,955

HGVS

Type Transcript Protein
RefSeq NM_020732.3:c.275C>G NP_065783.3:p.Ala92Gly
NM_017519.2:c.275C>G NP_059989.2:p.Ala92Gly
Ensemble ENST00000346085.10:c.275C>G ENST00000346085.10:p.Ala92Gly
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 614556 OMIM
HGNC 18040 HGNC
Ensembl ENSG00000049618 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 2023-06-01 criteria provided, single submitter not provided germline Detail
Uncertain significance 2023-10-10 criteria provided, single submitter ARID1B-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_001374828.1(ARID1B):c.275C>G (p.Ala92Gly) AND not provided ClinVar Detail
NM_001374828.1(ARID1B):c.275C>G (p.Ala92Gly) AND ARID1B-related disorder ClinVar 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
-
Genome
hg38
Position
chr6:156,777,955-156,777,955
Variant Type
snv
Reference Allele
C
Alternative Allele
G
Genome browser