Genomic variant #0000435505

Individual ID 00205066
Chromosome 3
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.122003260C>T
DNA change (hg38) -
Published as -
ISCN -
DB-ID CASR_000241
Variant remarks copied from CASRdb
Reference PubMed: Nagase 2002
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 LOVD




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

P-domain     
CASR NM_000388.3 +/? 7 c.2459C>T - r.(?) p.(S820F) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000206095 DNA SEQ - - CASR 1 -