chr1:114679616:T>A Detail (hg38) (AMPD1)

Information

Genome

Assembly Position
hg19 chr1:115,222,237-115,222,237 View the variant detail on this assembly version.
hg38 chr1:114,679,616-114,679,616

HGVS

Type Transcript Protein
RefSeq NM_001172626.1:c.848A>T NP_001166097.1:p.Lys283Ile
NM_000036.2:c.860A>T NP_000027.2:p.Lys287Ile
Ensemble ENST00000369538.4:c.848A>T ENST00000369538.4:p.Lys283Ile
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 tgv300984647 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2018-08-15 criteria provided, single submitter not provided germline unknown Detail
Conflicting interpretations of pathogenicity 2024-02-01 criteria provided, conflicting interpretations Muscle AMP deaminase deficiency germline unknown Detail
Benign Likely benign 2024-01-01 criteria provided, multiple submitters, no conflicts not specified germline Detail
Uncertain significance 2022-12-07 criteria provided, single submitter Muscle AMP deaminase deficiency,Hypercholesterolemia, autosomal dominant, type B germline Detail
Uncertain significance 2022-12-07 criteria provided, single submitter Muscle AMP deaminase deficiency,Hypercholesterolemia, autosomal dominant, type B germline Detail
Benign 2021-01-28 criteria provided, single submitter AMPD1-related disorder 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.860A>T (p.Lys287Ile) AND not provided ClinVar Detail
NM_000036.3(AMPD1):c.860A>T (p.Lys287Ile) AND Muscle AMP deaminase deficiency ClinVar Detail
NM_000036.3(AMPD1):c.860A>T (p.Lys287Ile) AND not specified ClinVar Detail
NM_000036.3(AMPD1):c.860A>T (p.Lys287Ile) AND multiple conditions ClinVar Detail
NM_000036.3(AMPD1):c.860A>T (p.Lys287Ile) AND multiple conditions ClinVar Detail
NM_000036.3(AMPD1):c.860A>T (p.Lys287Ile) AND AMPD1-related disorder 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
rs34526199 dbSNP
Genome
hg38
Position
chr1:114,679,616-114,679,616
Variant Type
snv
Reference Allele
T
Alternative Allele
A
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)
121378
Allele Counts in All Race (ExAC)
3425
Heterozygous Counts in All Race (ExAC)
3293
Homozygous Counts in All Race (ExAC)
66
Allele Frequency in All Race (ExAC)
0.028217634167641583
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