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Variant : CV430752 (NM_198270.4(NHS):c.3199C>A (p.His1067Asn)) Homo sapiens

Symbol: CV430752
Name: NM_198270.4(NHS):c.3199C>A (p.His1067Asn)
Condition: not specified [RCV000502058]
Clinical Significance: uncertain significance
Last Evaluated: 11/12/2015
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): NG_011553.2:g.356949C>A
NC_000023.11:g.17727368C>A
NC_000023.10:g.17745488C>A
NP_938011.1:p.His1067Asn
NM_001291868.2:c.2668C>A
NM_198270.3:c.3199C>A
NP_001278796.1:p.His1088Asn
NP_001129496.1:p.His911Asn
NP_001278797.1:p.His890Asn
NM_001136024.4:c.2731C>A
NM_198270.4:c.3199C>A
NM_001291867.2:c.3262C>A
Position
Human AssemblyChrPosition (strand)Source
GRCh38X17,727,368 - 17,727,368CLINVAR
GRCh37X17,745,488 - 17,745,488CLINVAR
Cytogenetic MapXXp22.13CLINVAR
Trait Synonyms: AllHighlyPenetrant



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13215074
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.