Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV299418 (NM_003759.3(SLC4A4):c.*1822delC) Homo sapiens

Symbol: CV299418
Name: NM_003759.3(SLC4A4):c.*1822delC
Condition: Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation [RCV000309281]
Clinical Significance: uncertain significance
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.*1822delC
NC_000004.12:g.71569573delC
NC_000004.11:g.72435290delC
Position
Human AssemblyChrPosition (strand)Source
GRCh38471,569,573 - 71,569,573CLINVAR
GRCh37472,435,290 - 72,435,290CLINVAR
Cytogenetic Map44q13.3CLINVAR
Trait Synonyms: RTA, PROXIMAL, AUTOSOMAL RECESSIVE



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11589298
Created: 2017-01-11
Species: Homo sapiens
Last Modified: 2019-08-06
Status: ACTIVE



NHLBI Logo

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