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Variant : CV430754 (NM_198270.4(NHS):c.4019C>T (p.Ser1340Leu)) Homo sapiens

Symbol: CV430754
Name: NM_198270.4(NHS):c.4019C>T (p.Ser1340Leu)
Condition: not specified [RCV000500074]
Clinical Significance: likely benign
Last Evaluated: 03/21/2016
Review Status: criteria provided, single submitter
Related Genes: NHS  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_198270.3:c.4019C>T
NP_001278797.1:p.Ser1163Leu
NP_001129496.1:p.Ser1184Leu
NG_011553.2:g.357769C>T
NC_000023.11:g.17728188C>T
NC_000023.10:g.17746308C>T
NP_938011.1:p.Ser1340Leu
NM_001291868.2:c.3488C>T
NM_001136024.4:c.3551C>T
NM_198270.4:c.4019C>T
NM_001291867.2:c.4082C>T
NP_001278796.1:p.Ser1361Leu
Position
Human AssemblyChrPosition (strand)Source
GRCh38X17,728,188 - 17,728,188CLINVAR
GRCh37X17,746,308 - 17,746,308CLINVAR
Cytogenetic MapXXp22.13CLINVAR
Trait Synonyms: AllHighlyPenetrant



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13213490
Created: 2017-09-12
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.