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Variant : CV294098 (NM_003759.3(SLC4A4):c.1878G>A (p.Ser626=)) Homo sapiens

Symbol: CV294098
Name: NM_003759.3(SLC4A4):c.1878G>A (p.Ser626=)
Condition: Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation [RCV000392787]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: SLC4A4  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): NM_003759.3:c.1878G>A
NM_001098484.2:c.2010G>A
NM_001134742.1:c.2010G>A
NG_012653.1:g.315251G>A
NC_000004.12:g.71497536G>A
NC_000004.11:g.72363253G>A
NP_003750.1:p.Ser626=
NP_001091954.1:p.Ser670=
NP_001128214.1:p.Ser670=
Position
Human AssemblyChrPosition (strand)Source
GRCh38471,497,536 - 71,497,536CLINVAR
GRCh37472,363,253 - 72,363,253CLINVAR
Cytogenetic Map44q13.3CLINVAR
Trait Synonyms: RTA, PROXIMAL, AUTOSOMAL RECESSIVE



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11597311
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.