Genomic variant #0000077865

Individual ID 00049085
Chromosome 14
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.94849381A>G
DNA change (hg38) g.94383044A>G
Published as g.7509T>C | L65P / Name: M-Procida
ISCN -
DB-ID SERPINA1_000041
Variant remarks -
Reference PubMed: Takahashi 1988
ClinVar ID -
dbSNP ID rs28931569
Origin Unknown
Segregation -
Frequency -
Re-site PvuII-
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner George Patrinos




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
SERPINA1 NM_001127701.1 ?/? 4 c.194T>C - r.(?) p.(Leu65Pro)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000049002 DNA ? - - SERPINA1 1 George Patrinos