Variant #0000553462 (NC_000014.8:g.94849388G>A, NM_001127701.1:c.187C>T (SERPINA1))

Chromosome 14
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.94849388G>A
DNA change (hg38) g.94383051G>A
Published as SERPINA1(NM_000295.4):c.187C>T (p.(Arg63Cys)), SERPINA1(NM_001127701.1):c.187C>T (p.R63C), SERPINA1(NM_001127701.2):c.187C>T (p.R63C)
ISCN -
DB-ID SERPINA1_000005 See all 5 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00104 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Date created 2019-07-18 18:22:55 +02:00 (CEST)
Date last edited 2022-05-09 15:51:19 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SERPINA1 NM_001127701.1 +/. - c.187C>T r.(?) p.(Arg63Cys)


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