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Variant : CV295570 (NM_003759.3(SLC4A4):c.2353C>A (p.Leu785Ile)) Homo sapiens

Symbol: CV295570
Name: NM_003759.3(SLC4A4):c.2353C>A (p.Leu785Ile)
Condition: Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation [RCV000392761]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: SLC4A4  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_003759.3:c.2353C>A
NM_001098484.2:c.2485C>A
NM_001134742.1:c.2485C>A
NG_012653.1:g.364107C>A
NC_000004.12:g.71546392C>A
NC_000004.11:g.72412109C>A
NP_003750.1:p.Leu785Ile
NP_001091954.1:p.Leu829Ile
NP_001128214.1:p.Leu829Ile
Position
Human AssemblyChrPosition (strand)Source
GRCh38471,546,392 - 71,546,392CLINVAR
GRCh37472,412,109 - 72,412,109CLINVAR
Cytogenetic Map44q13.3CLINVAR
Trait Synonyms: RTA, PROXIMAL, AUTOSOMAL RECESSIVE



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11597307
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.