Genomic variant #0000435469

Individual ID 00205030
Chromosome 3
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.122003002T>C
DNA change (hg38) -
Published as -
ISCN -
DB-ID CASR_000243
Variant remarks copied from CASRdb
Reference PubMed: Raue 2011
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.2201T>C - r.(?) p.(M734T) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000206059 DNA SEQ - - CASR 1 -