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Variant : CV430750 (NM_198270.4(NHS):c.739C>T (p.Arg247Cys)) Homo sapiens

Symbol: CV430750
Name: NM_198270.4(NHS):c.739C>T (p.Arg247Cys)
Condition: not specified [RCV000502766]
Clinical Significance: likely benign
Last Evaluated: 02/02/2017
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.321936C>T
NC_000023.11:g.17692355C>T
NC_000023.10:g.17710475C>T
NP_938011.1:p.Arg247Cys
NM_001136024.4:c.208C>T
NM_001291868.2:c.208C>T
NM_001291867.2:c.739C>T
NM_198270.4:c.739C>T
NM_198270.3:c.739C>T
NP_001278796.1:p.Arg247Cys
NP_001129496.1:p.Arg70Cys
NP_001278797.1:p.Arg70Cys
Position
Human AssemblyChrPosition (strand)Source
GRCh38X17,692,355 - 17,692,355CLINVAR
GRCh37X17,710,475 - 17,710,475CLINVAR
Cytogenetic MapXXp22.13CLINVAR
Trait Synonyms: AllHighlyPenetrant



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13215731
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.