Variant #0001030879 (NC_000001.10:g.155263347G>A, NM_000298.5:c.1151C>T (PKLR))

Chromosome 1
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.155263347G>A
DNA change (hg38) -
Published as -
ISCN -
DB-ID PKLR_000009 See all 13 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID rs74315362
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
Owner MobiDetails
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by MobiDetails
Date created 2025-04-18 12:50:01 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
PKLR NM_000298.5 +/. - c.1151C>T - r.(?) p.(Thr384Met)


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