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Variant : CV299449 (NM_003759.3(SLC4A4):c.*3747G>A) Homo sapiens

Symbol: CV299449
Name: NM_003759.3(SLC4A4):c.*3747G>A
Condition: Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation [RCV000392678]
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.*3605G>A
NM_001098484.2:c.*3747G>A
NM_003759.3:c.*3747G>A
NG_012653.1:g.389213G>A
NC_000004.12:g.71571498G>A
NC_000004.11:g.72437215G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh38471,571,498 - 71,571,498CLINVAR
GRCh37472,437,215 - 72,437,215CLINVAR
Cytogenetic Map44q13.3CLINVAR
Trait Synonyms: RTA, PROXIMAL, AUTOSOMAL RECESSIVE



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11663136
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.