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Variant : CV102529 (NM_198270.4(NHS):c.2267T>C (p.Phe756Ser)) Homo sapiens

Symbol: CV102529
Name: NM_198270.4(NHS):c.2267T>C (p.Phe756Ser)
Condition: not specified [RCV000082798]
Clinical Significance: likely benign
Last Evaluated: 06/21/2013
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.1736T>C
NM_001136024.4:c.1799T>C
NM_198270.4:c.2267T>C
NM_001291867.2:c.2330T>C
NP_001278797.1:p.Phe579Ser
NP_001129496.1:p.Phe600Ser
NP_938011.1:p.Phe756Ser
NP_001278796.1:p.Phe777Ser
NC_000023.11:g.17726436T>C
NC_000023.10:g.17744556T>C
NM_198270.2:c.2267T>C
NP_938011.1:p.Phe756Ser
NG_011553.2:g.356017T>C
NG_011553.1:g.356014T>C
Position
Human AssemblyChrPosition (strand)Source
GRCh38X17,726,436 - 17,726,436CLINVAR
GRCh37X17,744,556 - 17,744,556CLINVAR
Cytogenetic MapXXp22.13CLINVAR
Trait Synonyms: AllHighlyPenetrant




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8643546
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.