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Variant : CV295581 (NM_003759.3(SLC4A4):c.*58delA) Homo sapiens

Symbol: CV295581
Name: NM_003759.3(SLC4A4):c.*58delA
Condition: Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation [RCV000284438]
Clinical Significance: likely benign
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: SLC4A4  
Variant Type: deletion (SO:0001624)
Source: CLINVAR
Molecular Consequence: 3 prime utr variant
Evidence: clinical testing
HGVS Name(s): NM_003759.3:c.*58delA
NC_000004.12:g.71567809delA
NC_000004.11:g.72433526delA
NP_001128214.1:p.Val1068Leufs
Position
Human AssemblyChrPosition (strand)Source
GRCh38471,567,809 - 71,567,809CLINVAR
GRCh37472,433,526 - 72,433,526CLINVAR
Cytogenetic Map44q13.3CLINVAR
Trait Synonyms: RTA, PROXIMAL, AUTOSOMAL RECESSIVE



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11585938
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.