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Variant : CV102532 (NM_198270.4(NHS):c.3482C>T (p.Pro1161Leu)) Homo sapiens

Symbol: CV102532
Name: NM_198270.4(NHS):c.3482C>T (p.Pro1161Leu)
Condition: AllHighlyPenetrant [RCV000082801]|not specified [RCV000082801]
Clinical Significance: benign
Last Evaluated: 05/02/2013
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): NM_001291868.2:c.2951C>T
NM_001291867.2:c.3545C>T
NP_001129496.1:p.Pro1005Leu
NP_938011.1:p.Pro1161Leu
NP_001278796.1:p.Pro1182Leu
NP_001278797.1:p.Pro984Leu
NM_001136024.4:c.3014C>T
NM_198270.4:c.3482C>T
NC_000023.11:g.17727651C>T
NC_000023.10:g.17745771C>T
NM_198270.2:c.3482C>T
NP_938011.1:p.Pro1161Leu
NG_011553.2:g.357232C>T
NG_011553.1:g.357229C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38X17,727,651 - 17,727,651CLINVAR
GRCh37X17,745,771 - 17,745,771CLINVAR
Cytogenetic MapXXp22.13CLINVAR
Trait Synonyms: AllHighlyPenetrant




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8643549
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.