Genomic variant #0000130177

Individual ID 00080979
Chromosome 13
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.110822921C>T
DNA change (hg38) g.110170574C>T
Published as -
ISCN -
DB-ID COL4A1_000068 See all 2 reported entries
Variant remarks -
Reference Trujillano et al., submitted
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Daniel Trujillano
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
COL4A1 NM_001845.4 +/. - c.3715G>A ACMG: 5 r.(?) p.(Gly1239Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000081091 DNA SEQ;SEQ-NG - - COL4A1 1 Daniel Trujillano