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Variant : CV537540 (NM_016390.4(SPOUT1):c.256A>G (p.Asn86Asp)) Homo sapiens

Symbol: CV537540
Name: NM_016390.4(SPOUT1):c.256A>G (p.Asn86Asp)
Condition: not provided [RCV000659125]
Clinical Significance: uncertain significance
Last Evaluated: 02/28/2018
Review Status: criteria provided, single submitter
Related Genes: SPOUT1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NC_000009.12:g.128827144T>C
NC_000009.11:g.131589423T>C
NP_057474.2:p.Asn86Asp
NM_016390.4:c.256A>G
Position
Human AssemblyChrPosition (strand)Source
GRCh389128,827,144 - 128,827,144CLINVAR
GRCh379131,589,423 - 131,589,423CLINVAR
Cytogenetic Map99q34.11CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13706440
Created: 2018-08-07
Species: Homo sapiens
Last Modified: 2020-02-20
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.