Variant #0000307897 (NC_000014.8:g.94844843T>G, SERPINA1(NM_001127701.1):c.1200A>C)

Chromosome 14
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.94844843T>G
DNA change (hg38) g.94378506T>G
Published as SERPINA1(NM_000295.4):c.1200A>C (p.E400D), SERPINA1(NM_001127701.1):c.1200A>C (p.E400D)
ISCN -
DB-ID SERPINA1_000001 See all 45 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.27804 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SERPINA1 NM_001127701.1 -/. - c.1200A>C r.(?) p.(Glu400Asp)