chr11:108256340:G>C Detail (hg38) (ATM)

Information

Genome

Assembly Position
hg19 chr11:108,127,067-108,127,067 View the variant detail on this assembly version.
hg38 chr11:108,256,340-108,256,340

HGVS

Type Transcript Protein
RefSeq NM_000051.3:c.2250G>C NP_000042.3:p.Lys750Asn
NM_001351834.1:c.2250G>C NP_001338763.1:p.Lys750Asn
Ensemble ENST00000278616.10:c.2250G>C ENST00000278616.10:p.Lys750Asn
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 607585 OMIM
HGNC 795 HGNC
Ensembl ENSG00000149311 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM21643 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2021-08-23 criteria provided, single submitter Ataxia-telangiectasia syndrome germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.709 ataxia telangiectasia NA CLINVAR Detail
0.120 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000051.4(ATM):c.2250G>C (p.Lys750Asn) AND Ataxia-telangiectasia syndrome ClinVar 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
rs1137887 dbSNP
Genome
hg38
Position
chr11:108,256,340-108,256,340
Variant Type
snv
Reference Allele
G
Alternative Allele
C
Genome browser