Genomic variant #0000298111

Chromosome 14
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.94849460G>T
DNA change (hg38) -
Published as SERPINA1(NM_001127701.1):c.115C>A (p.H39N)
ISCN -
DB-ID SERPINA1_000045 See all 2 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 (large NGS studies) 8.0E-5 View details
Owner VKGL-NL




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
SERPINA1 NM_001127701.1 -?/. - c.115C>A likely benign r.(?) p.(His39Asn)