chr11:108329210:CTTAGG> Detail (hg38) (ATM, C11orf65)

Information

Genome

Assembly Position
hg19 chr11:108,199,937-108,199,942 
hg38 chr11:108,329,210-108,329,215

HGVS

Type Transcript Protein
RefSeq NM_000051.3:c.7279_7284delCTTAGG NP_000042.3:p.Leu2427_Arg2428del
NM_001351834.1:c.7279_7284delCTTAGG NP_001338763.1:p.Leu2427_Arg2428del
Ensemble ENST00000278616.10:c.7279_7284delCTTAGG ENST00000278616.10:p.Leu2427_Arg2428del
Type Transcript Protein
RefSeq NM_001330368.1:c.641-20144_641-20139delCCTAAG
Ensemble ENST00000525729.5:c.641-20144_641-20139delCCTAAG
Summary

MGeND

Clinical significance
Variant entry
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 607585 OMIM
HGNC 795 HGNC
Ensembl ENSG00000149311 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant 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
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 1995-06-23 no assertion criteria provided Ataxia-telangiectasia syndrome germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.709 ataxia telangiectasia NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000051.4(ATM):c.7279_7284del (p.Leu2427_Arg2428del) AND Ataxia-telangiectasia syndrome 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
rs796051856 dbSNP
Genome
hg38
Position
chr11:108,329,210-108,329,215
Variant Type
snv
Reference Allele
CTTAGG
Alternative Allele
-
Genome browser