Genomic variant #0000579655

Individual ID 00249042
Chromosome 3
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Effect unknown
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.48610763C>T
DNA change (hg38) g.48573330C>T
Published as -
ISCN -
DB-ID COL7A1_000250 See all 2 reported entries
Variant remarks missense mutation; unknown variant 2nd chromosome
Reference PubMed: Almaani 2011, {PMID:Almaani 2009:6:19197535}
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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
COL7A1 NM_000094.3 +/? 83 c.6637G>A r.(?) p.(Gly2213Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000250149 DNA SEQ - - COL7A1 1 Peter van den Akker