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Variant : CV135224 (NM_198270.4(NHS):c.766C>G (p.Leu256Val)) Homo sapiens

Symbol: CV135224
Name: NM_198270.4(NHS):c.766C>G (p.Leu256Val)
Condition: not provided [RCV000117794]
Clinical Significance: uncertain significance
Last Evaluated: 10/11/2013
Review Status: classified by single submitter|criteria provided, single submitter
Related Genes: NHS  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense|missense variant
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.17692382C>G
NC_000023.10:g.17710502C>G
NM_198270.2:c.766C>G
NP_938011.1:p.Leu256Val
NG_011553.2:g.321963C>G
NM_198270.4:c.766C>G
NP_001278796.1:p.Leu256Val
NM_001291867.2:c.766C>G
NM_001291868.2:c.235C>G
NP_001278797.1:p.Leu79Val
NM_001136024.4:c.235C>G
NP_001129496.1:p.Leu79Val
Position
Human AssemblyChrPosition (strand)Source
GRCh38X17,692,382 - 17,692,382CLINVAR
GRCh37X17,710,502 - 17,710,502CLINVAR
Cytogenetic MapXXp22.13CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8660209
Created: 2014-06-10
Species: Homo sapiens
Last Modified: 2019-09-06
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.