Variant #0000000530 (NC_000014.8:g.94849201C>T, SERPINA1(NM_001127701.1):c.374G>A)

Individual ID 00000035
Chromosome 14
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.94849201C>T
DNA change (hg38) g.94382864C>T
Published as -
ISCN -
DB-ID SERPINA1_000003 See all 35 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.16021 View details
Owner Gerard C.P. Schaafsma
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SERPINA1 NM_001127701.1 ?/. - c.374G>A r.(?) p.(Arg125His)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000035 DNA SEQ-NG - - ADA, ATP7B, BLM, CFTR, DPYD, ETFB, GLB1, HBB, IGHMBP2, MYO5A, PKHD1, SERPINA1, SMPD1 17 Global Variome, with Curator vacancy