Genomic variant #0000000920

Individual ID 00000063
Chromosome 3
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.48602254C>T
DNA change (hg38) g.48564821C>T
Published as -
ISCN -
DB-ID COL7A1_000361
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) 0.00023 View details
Owner Gerard C.P. Schaafsma
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
COL7A1 NM_000094.3 ?/. 117 c.8780G>A r.(?) p.(Arg2927His)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000063 DNA SEQ-NG - - ADA, ATP7B, COL7A1, ETFB, GLB1, LYST, MEFV, NHLRC1, NPHS1, NTRK1, SERPINA1 13 Global Variome, with Curator vacancy