Genomic variant #0000435295

Individual ID 00204856
Chromosome 3
Allele Unknown
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.121976214G>A
DNA change (hg38) g.122257367G>A
Published as 472G>C
ISCN -
DB-ID CASR_000170
Variant remarks copied from CASRdb
Reference PubMed: Cole 2009
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 -
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
CASR NM_000388.3 +/? 3 c.472G>A r.(?) p.(G158R) ECD 



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000205885 DNA SEQ - - CASR 1 -