Variant #0000704289 (NC_000016.9:g.56913039G>C, NM_000339.2:c.1235G>C (SLC12A3))

Individual ID 00320255
Chromosome 16
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.56913039G>C
DNA change (hg38) -
Published as -
ISCN -
DB-ID SLC12A3_000140
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Takayasu Mori
Database submission license No license selected
Created by Takayasu Mori
Date created 2020-11-25 13:40:49 +01:00 (CET)
Date last edited 2020-11-25 15:56:14 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SLC12A3 NM_000339.2 ?/. - c.1235G>C r.(?) p.(Gly412Ala)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000321442 DNA SEQ-NG-I - - SLC12A3 3 Takayasu Mori


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