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Variant : CV135222 (NM_198270.4(NHS):c.3955T>C (p.Phe1319Leu)) Homo sapiens

Symbol: CV135222
Name: NM_198270.4(NHS):c.3955T>C (p.Phe1319Leu)
Condition: AllHighlyPenetrant [RCV000117792]|History of neurodevelopmental disorder [RCV000715327]|Neurodevelopmental [RCV000715327]|not provided [RCV000836772]|not specified [RCV000117792]
Clinical Significance: benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
Last Evaluated: 04/02/2018
Review Status: classified by multiple submitters|classified by single submitter|criteria provided, conflicting interpretations|criteria provided, multiple submitters, no conflicts|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): NC_000023.11:g.17728124T>C
NC_000023.10:g.17746244T>C
NM_198270.2:c.3955T>C
NP_938011.1:p.Phe1319Leu
NG_011553.2:g.357705T>C
NM_198270.4:c.3955T>C
NM_198270.2:c.3955T>C
NM_001291867.2:c.4018T>C
NP_001278797.1:p.Phe1142Leu
NP_001129496.1:p.Phe1163Leu
NP_938011.1:p.Phe1319Leu
NP_001278796.1:p.Phe1340Leu
NM_001136024.4:c.3487T>C
NM_001291868.2:c.3424T>C
Position
Human AssemblyChrPosition (strand)Source
GRCh38X17,728,124 - 17,728,124CLINVAR
GRCh37X17,746,244 - 17,746,244CLINVAR
Cytogenetic MapXXp22.13CLINVAR
Trait Synonyms: AllHighlyPenetrant



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8660207
Created: 2014-06-10
Species: Homo sapiens
Last Modified: 2019-09-06
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.