Variant #0000501898 (NC_000019.9:g.18897443C>T, COMP(NM_000095.2):c.1153G>A)

Individual ID 00247936
Chromosome 19
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Effect unknown
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.18897443C>T
DNA change (hg38) g.18786633C>T
Published as -
ISCN -
DB-ID COMP_000059 See all 4 reported entries
Variant remarks conserved functional residue in C-type motif; normal 2nd chromosome
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Michael Briggs
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
COMP NM_000095.2 +/? 11 c.1153G>A r.(?) p.(Asp385Asn)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000249042 DNA SEQ - - COMP 1 Michael Briggs