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Variant : CV135223 (NM_198270.4(NHS):c.4769G>C (p.Ser1590Thr)) Homo sapiens

Symbol: CV135223
Name: NM_198270.4(NHS):c.4769G>C (p.Ser1590Thr)
Condition: AllHighlyPenetrant [RCV000117793]|not specified [RCV000117793]
Clinical Significance: benign|likely benign
Last Evaluated: 08/01/2016
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: NHS  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense|missense variant
Evidence: clinical testing
HGVS Name(s): NM_198270.4:c.4769G>C
NM_001291867.2:c.4832G>C
NP_001278797.1:p.Ser1413Thr
NP_001129496.1:p.Ser1434Thr
NP_001278796.1:p.Ser1611Thr
NM_001291868.2:c.4238G>C
NM_001136024.4:c.4301G>C
NC_000023.11:g.17732340G>C
NC_000023.10:g.17750460G>C
NM_198270.2:c.4769G>C
NP_938011.1:p.Ser1590Thr
NG_011553.2:g.361921G>C
Position
Human AssemblyChrPosition (strand)Source
GRCh38X17,732,340 - 17,732,340CLINVAR
GRCh37X17,750,460 - 17,750,460CLINVAR
Cytogenetic MapXXp22.13CLINVAR
Trait Synonyms: AllHighlyPenetrant




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8660208
Created: 2014-06-10
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.