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Variant : CV299427 (NM_003759.3(SLC4A4):c.*2819A>C) Homo sapiens

Symbol: CV299427
Name: NM_003759.3(SLC4A4):c.*2819A>C
Condition: Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation [RCV000385666]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: SLC4A4  
Variant Type: single nucleotide variant (SO:0001624)
Source: CLINVAR
Molecular Consequence: 3 prime utr variant
Evidence: clinical testing
HGVS Name(s): NM_001134742.1:c.*2677A>C
NM_001098484.2:c.*2819A>C
NM_003759.3:c.*2819A>C
NG_012653.1:g.388285A>C
NC_000004.12:g.71570570A>C
NC_000004.11:g.72436287A>C
Position
Human AssemblyChrPosition (strand)Source
GRCh38471,570,570 - 71,570,570CLINVAR
GRCh37472,436,287 - 72,436,287CLINVAR
Cytogenetic Map44q13.3CLINVAR
Trait Synonyms: RTA, PROXIMAL, AUTOSOMAL RECESSIVE



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11662415
Created: 2017-01-11
Species: Homo sapiens
Last Modified: 2019-08-06
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.