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Variant : CV503500 (NM_032273.4(TMEM126A):c.-12A>G) Homo sapiens

Symbol: CV503500
Name: NM_032273.4(TMEM126A):c.-12A>G
Condition: not specified [RCV000601758]
Clinical Significance: likely benign
Last Evaluated: 03/28/2017
Review Status: criteria provided, single submitter
Related Genes: TMEM126A  
Variant Type: single nucleotide variant (SO:0001623)
Source: CLINVAR
Molecular Consequence: 5 prime utr variant
Evidence: clinical testing
HGVS Name(s): NG_017157.1:g.5167A>G
NC_000011.10:g.85648085A>G
NC_000011.9:g.85359129A>G
NM_001244735.1:c.-129A>G
NM_032273.4:c.-12A>G
NG_017157.2:g.5167A>G
NM_032273.3:c.-12A>G
Position
Human AssemblyChrPosition (strand)Source
GRCh381185,648,085 - 85,648,085CLINVAR
GRCh371185,359,129 - 85,359,129CLINVAR
Cytogenetic Map1111q14.1CLINVAR
Trait Synonyms: AllHighlyPenetrant




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13533766
Created: 2018-05-08
Species: Homo sapiens
Last Modified: 2020-03-17
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.