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Variant : CV729834 (NM_016510.7(SCLY):c.1161G>C (p.Ala387=)) Homo sapiens

Symbol: CV729834
Name: NM_016510.7(SCLY):c.1161G>C (p.Ala387=)
Condition: not provided [RCV000889545]
Clinical Significance: likely benign
Last Evaluated: 05/09/2018
Review Status: criteria provided, single submitter
Related Genes: SCLY   UBE2F-SCLY  
Variant Type: single nucleotide variant (SO:0001619)
Source: CLINVAR
Molecular Consequence: non-coding transcript variant
Evidence: clinical testing
HGVS Name(s): NM_016510.7:c.1161G>C
NM_016510.7:c.1161G>C
NC_000002.12:g.238096853G>C
NC_000002.11:g.239005494G>C
NR_037904.1:n.1737G>C
NM_016510.5:c.1185G>C
NP_057594.5:p.Ala387=
Position
Human AssemblyChrPosition (strand)Source
GRCh382238,096,853 - 238,096,853CLINVAR
GRCh372239,005,494 - 239,005,494CLINVAR
Cytogenetic Map22q37.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 15195596
Created: 2020-01-07
Species: Homo sapiens
Last Modified: 2020-05-12
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.