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Variant : CV299360 (NM_003759.3(SLC4A4):c.882C>T (p.His294=)) Homo sapiens

Symbol: CV299360
Name: NM_003759.3(SLC4A4):c.882C>T (p.His294=)
Condition: Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation [RCV000295530]
Clinical Significance: likely benign
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_001098484.2:c.1014C>T
NM_001134742.1:c.1014C>T
NM_003759.3:c.882C>T
NG_012653.1:g.265409C>T
NC_000004.12:g.71447694C>T
NC_000004.11:g.72313411C>T
NP_003750.1:p.His294=
NP_001091954.1:p.His338=
NP_001128214.1:p.His338=
Position
Human AssemblyChrPosition (strand)Source
GRCh38471,447,694 - 71,447,694CLINVAR
GRCh37472,313,411 - 72,313,411CLINVAR
Cytogenetic Map44q13.3CLINVAR
Trait Synonyms: RTA, PROXIMAL, AUTOSOMAL RECESSIVE



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11587506
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.