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Variant : CV102527 (NM_198270.4(NHS):c.211C>T (p.Pro71Ser)) Homo sapiens

Symbol: CV102527
Name: NM_198270.4(NHS):c.211C>T (p.Pro71Ser)
Condition: History of neurodevelopmental disorder [RCV000717108]|Nance-Horan syndrome [RCV000537672]|Neurodevelopmental [RCV000717108]|not provided [RCV000082796]|not provided [RCV000117788]|not provided [RCV000224466]|not specified [RCV000173025]
Clinical Significance: benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
Last Evaluated: 09/18/2017
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): NM_001291867.2:c.211C>T
NM_198270.4:c.211C>T
NP_938011.1:p.Pro71Ser
NP_938011.1:p.Pro71Ser
NP_938011.1:p.Pro71Ser
NM_198270.3:c.211C>T
NP_001278796.1:p.Pro71Ser
NC_000023.11:g.17375968C>T
NC_000023.10:g.17394091C>T
NM_198270.2:c.211C>T
NP_938011.1:p.Pro71Ser
NG_011553.2:g.5549C>T
NG_011553.1:g.5549C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38X17,375,968 - 17,375,968CLINVAR
GRCh37X17,394,091 - 17,394,091CLINVAR
Cytogenetic MapXXp22.2CLINVAR
Trait Synonyms: AllHighlyPenetrant



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8643544
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.