chr11:108354839:A>C Detail (hg38) (ATM, C11orf65)

Information

Genome

Assembly Position
hg19 chr11:108,225,566-108,225,566 View the variant detail on this assembly version.
hg38 chr11:108,354,839-108,354,839

HGVS

Type Transcript Protein
RefSeq NM_000051.3:c.8815A>C NP_000042.3:p.Arg2939=
NM_001351834.1:c.8815A>C NP_001338763.1:p.Arg2939=
Ensemble ENST00000278616.10:c.8815A>C ENST00000278616.10:p.Arg2939=
Type Transcript Protein
RefSeq NM_001330368.1:c.640+31081T>G
Ensemble ENST00000525729.5:c.640+31081T>G
ENST00000615746.4:c.*1196+76T>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Likely benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 607585 OMIM
HGNC 795 HGNC
Ensembl ENSG00000149311 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv375529289 TogoVar
COSMIC
MONDO
Type Database ID Link
Gene MIM
HGNC 28519 HGNC
Ensembl ENSG00000166323 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv375529289 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely benign 2016-09-08 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_000051.4(ATM):c.8815A>C (p.Arg2939=) AND Hereditary cancer-predisposing syndrome 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
-
dbSNP
rs1555143522 dbSNP
Genome
hg38
Position
chr11:108,354,839-108,354,839
Variant Type
snv
Reference Allele
A
Alternative Allele
C
Genome browser