Variant #0000048949 (NC_000001.10:g.27121679A>C, PIGV(NM_017837.3):c.1154A>C)

Individual ID 00025921
Chromosome 1
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.27121679A>C
DNA change (hg38) g.26795188A>C
Published as -
ISCN -
DB-ID PIGV_000002
Variant remarks This mutation affects a highly conserved residue of PIGV. This was absent in 200 200 healthy, unrelated central European individuals.
Reference PubMed: Krawtiz 2010
ClinVar ID -
dbSNP ID rs267606951
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Philippe Campeau
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PIGV NM_017837.3 +/. - c.1154A>C r.(?) p.(His385Pro)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000025923 DNA SEQ - - PIGV 2 Philippe Campeau