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Variant : CV208985 (NM_198270.4(NHS):c.1100C>T (p.Ser367Leu)) Homo sapiens

Symbol: CV208985
Name: NM_198270.4(NHS):c.1100C>T (p.Ser367Leu)
Condition: not specified [RCV000193889]
Clinical Significance: uncertain significance
Last Evaluated: 05/05/2015
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_198270.4:c.1100C>T
NM_001291867.2:c.1163C>T
NM_001291868.2:c.569C>T
NM_001136024.4:c.632C>T
NP_001278797.1:p.Ser190Leu
NP_001129496.1:p.Ser211Leu
NP_001278796.1:p.Ser388Leu
NG_011553.2:g.353934C>T
NC_000023.11:g.17724353C>T
NC_000023.10:g.17742473C>T
NM_198270.2:c.1100C>T
NP_938011.1:p.Ser367Leu
Position
Human AssemblyChrPosition (strand)Source
GRCh38X17,724,353 - 17,724,353CLINVAR
GRCh37X17,742,473 - 17,742,473CLINVAR
Cytogenetic MapXXp22.13CLINVAR
Trait Synonyms: AllHighlyPenetrant



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 10403978
Created: 2015-11-10
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.