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Variant : CV106755 (NM_198270.4(NHS):c.1048G>T (p.Val350Phe)) Homo sapiens

Symbol: CV106755
Name: NM_198270.4(NHS):c.1048G>T (p.Val350Phe)
Condition: not provided [RCV000087257]
Clinical Significance: uncertain significance
Last Evaluated:
Review Status: classified by multiple submitters|classified by single submitter|no assertion criteria provided
Related Genes: NHS  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: literature only|not provided
HGVS Name(s): NP_001278797.1:p.Val173Phe
NP_001129496.1:p.Val194Phe
NM_001291867.2:c.1111G>T
NM_001136024.4:c.580G>T
NM_198270.4:c.1048G>T
NM_001291868.2:c.517G>T
NP_001278796.1:p.Val371Phe
NC_000023.11:g.17724301G>T
NC_000023.10:g.17742421G>T
NM_198270.2:c.1048G>T
NP_938011.1:p.Val350Phe
NG_011553.2:g.353882G>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38X17,724,301 - 17,724,301CLINVAR
GRCh37X17,742,421 - 17,742,421CLINVAR
Cytogenetic MapXXp22.13CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8647119
Created: 2014-05-13
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.