Genomic variant #0000330885

Chromosome 6
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.31605016T>C
DNA change (hg38) -
Published as PRRC2A(NM_004638.3):c.6248T>C (p.(Phe2083Ser))
ISCN -
DB-ID PRRC2A_000006
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) 0.00605 View details
Owner VKGL-NL




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
PRRC2A NM_080686.2 -?/. - c.6248T>C likely benign r.(?) p.(Phe2083Ser)
BAG6 NM_080703.2 -?/. - c.*1892A>G likely benign r.(=) p.(=)