Genomic variant #0000501968

Individual ID 00247891
Chromosome 19
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.18897376C>A
DNA change (hg38) -
Published as -
ISCN -
DB-ID COMP_000079
Variant remarks normal 2nd chromosome
Reference PubMed: Kennedy 2005
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 LOVD




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
COMP NM_000095.2 +/? 11 c.1220G>T pathogenic r.(?) p.(Cys407Phe)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000248997 DNA SEQ - - COMP 1 -