Genomic variant #0000000921

Individual ID 00000013
Chromosome 3
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.48619778C>T
DNA change (hg38) g.48582345C>T
Published as -
ISCN -
DB-ID COL7A1_000362
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) 0.00484 View details
Owner Gerard C.P. Schaafsma




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
COL7A1 NM_000094.3 ?/. 46 c.4613G>A - r.(?) p.(Arg1538His)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000013 DNA SEQ-NG - - AGL, ATP7B, COL7A1, HADHA, MEFV, NHLRC1, PAH, SMPD1 8 LOVD-team, but with Curator vacancy