Genomic variant #0000000467

Individual ID 00000041
Chromosome 14
Allele Both (homozygous)
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.94844843T>G
DNA change (hg38) g.94378506T>G
Published as -
ISCN -
DB-ID SERPINA1_000001 See all 45 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) 0.20714 View details
Owner Gerard C.P. Schaafsma




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

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



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000041 DNA SEQ-NG - - ATP7A, ATP7B, DPYD, ETFB, IGHMBP2, MPL, MYO5A, NHLRC1, NPHP4, NPHS1, PLP1, SERPINA1 13 LOVD-team, but with Curator vacancy