Genomic variant #0000000551

Individual ID 00000098
Chromosome 14
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.94844947C>T
DNA change (hg38) g.94378610C>T
Published as -
ISCN -
DB-ID SERPINA1_000004 See all 10 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) 0.0123 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.1096G>A - r.(?) p.(Glu366Lys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000098 DNA SEQ-NG - - ATP7B, GLB1, NHLRC1, SERPINA1 5 LOVD-team, but with Curator vacancy