chr1:115231367:AAGA> Detail (hg19) (AMPD1)

Information

Genome

Assembly Position
hg19 chr1:115,231,367-115,231,370
hg38 chr1:114,688,746-114,688,749 

HGVS

Type Transcript Protein
RefSeq NM_001172626.1:c.23-8_23-5delTCTT
NM_000036.2:c.35-8_35-5delTCTT
Ensemble ENST00000369538.4:c.23-8_23-5delTCTT
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
Review star
Show details
Links
Type Database ID Link
Gene MIM 102770 OMIM
HGNC 468 HGNC
Ensembl ENSG00000116748 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 2013-03-11 criteria provided, single submitter not provided germline Detail
Likely benign 2024-01-01 criteria provided, single submitter Muscle AMP deaminase deficiency germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.241 Muscle AMP deaminase deficiency NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000036.3(AMPD1):c.35-7_35-4del AND not provided ClinVar Detail
NM_000036.3(AMPD1):c.35-7_35-4del AND Muscle AMP deaminase deficiency ClinVar Detail
NA DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs398123114 dbSNP
Genome
hg19
Position
chr1:115,231,367-115,231,370
Variant Type
snv
Reference Allele
AAGA
Alternative Allele
-
East Asian Chromosome Counts (ExAC)
8652
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
121372
Allele Counts in All Race (ExAC)
78
Heterozygous Counts in All Race (ExAC)
78
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
6.426523415614804E-4
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