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Variant : CV380002 (NM_198270.4(NHS):c.4196T>A (p.Leu1399His)) Homo sapiens

Symbol: CV380002
Name: NM_198270.4(NHS):c.4196T>A (p.Leu1399His)
Condition: not specified [RCV000417580]
Clinical Significance: uncertain significance
Last Evaluated: 01/24/2017
Review Status: criteria provided, single submitter
Related Genes: NHS  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NG_011553.2:g.358266T>A
NC_000023.11:g.17728685T>A
NC_000023.10:g.17746805T>A
NM_198270.2:c.4196T>A
NP_938011.1:p.Leu1399His
NP_001278797.1:p.Leu1222His
NP_001129496.1:p.Leu1243His
NP_001278796.1:p.Leu1420His
NM_001291867.2:c.4259T>A
NM_001291868.2:c.3665T>A
NM_001136024.4:c.3728T>A
NM_198270.4:c.4196T>A
Position
Human AssemblyChrPosition (strand)Source
GRCh38X17,728,685 - 17,728,685CLINVAR
GRCh37X17,746,805 - 17,746,805CLINVAR
Cytogenetic MapXXp22.13CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12832958
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2019-09-10
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.