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Variant : CV135221 (NM_198270.4(NHS):c.3141A>G (p.Leu1047=)) Homo sapiens

Symbol: CV135221
Name: NM_198270.4(NHS):c.3141A>G (p.Leu1047=)
Condition: AllHighlyPenetrant [RCV000117791]|History of neurodevelopmental disorder [RCV000715675]|Nance-Horan syndrome [RCV000531477]|Neurodevelopmental [RCV000715675]|not specified [RCV000117791]
Clinical Significance: benign|likely benign
Last Evaluated: 07/26/2017
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: NHS  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): NM_001136024.4:c.2673A>G
NM_001291868.2:c.2610A>G
NM_198270.4:c.3141A>G
NM_001291867.2:c.3204A>G
NM_198270.3:c.3141A>G
NP_001278796.1:p.Leu1068=
NP_001278797.1:p.Leu870=
NP_001129496.1:p.Leu891=
NC_000023.11:g.17727310A>G
NC_000023.10:g.17745430A>G
NM_198270.2:c.3141A>G
NP_938011.1:p.Leu1047=
NG_011553.2:g.356891A>G
Position
Human AssemblyChrPosition (strand)Source
GRCh38X17,727,310 - 17,727,310CLINVAR
GRCh37X17,745,430 - 17,745,430CLINVAR
Cytogenetic MapXXp22.13CLINVAR
Trait Synonyms: AllHighlyPenetrant



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8660206
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.