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Variant : CV576172 (NM_016069.11(PAM16):c.112C>G (p.Arg38Gly)) Homo sapiens

Symbol: CV576172
Name: NM_016069.11(PAM16):c.112C>G (p.Arg38Gly)
Condition: Spondylometaphyseal dysplasia, megarbane-dagher-melki type [RCV000709807]
Clinical Significance: not provided
Last Evaluated:
Review Status: no assertion provided
Related Genes: CORO7-PAM16   PAM16  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: phenotyping only
HGVS Name(s): NG_054893.1:g.14892C>G
NC_000016.10:g.4341481G>C
NC_000016.9:g.4391482G>C
NM_016069.9:c.112C>G
NP_057153.8:p.Arg38Gly
NM_016069.11:c.112C>G
NM_001201479.2:c.2881C>G
NP_001188408.1:p.Arg961Gly
NG_016391.2:g.31721G>C
Position
Human AssemblyChrPosition (strand)Source
GRCh38164,341,481 - 4,341,481CLINVAR
GRCh37164,391,482 - 4,391,482CLINVAR
Cytogenetic Map1616p13.3CLINVAR




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13820753
Created: 2018-11-06
Species: Homo sapiens
Last Modified: 2020-01-14
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.