Genomic variant #0000579672

Individual ID 00249382
Chromosome 3
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.48610345G>A
DNA change (hg38) -
Published as -
ISCN -
DB-ID COL7A1_000018 See all 4 reported entries
Variant remarks premature termination codon
Reference PubMed: Kern 2009
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Peter van den Akker




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
COL7A1 NM_000094.3 +/? 86 c.6781C>T pathogenic (recessive) r.(?) p.(Arg2261*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000250489 DNA SEQ - - COL7A1 1 Peter van den Akker