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Variant : CV185715 (NM_016069.11(PAM16):c.226A>G (p.Asn76Asp)) Homo sapiens

Symbol: CV185715
Name: NM_016069.11(PAM16):c.226A>G (p.Asn76Asp)
Condition: Chondrodysplasia, megarbane-dagher-melki type [RCV000167551]|Spondylometaphyseal dysplasia, megarbane-dagher-melki type [RCV000167551]
Clinical Significance: pathogenic|not provided
Last Evaluated: 03/23/2015
Review Status: classified by single submitter|no assertion criteria provided|not classified by submitter
Related Genes: CORO7-PAM16   PAM16  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: literature only
HGVS Name(s): NC_000016.10:g.4340985T>C
NC_000016.9:g.4390986T>C
NP_057153.8:p.Asn76Asp
Q9Y3D7:p.Asn76Asp
NG_054893.1:g.15388A>G
NM_001201479.2:c.2995A>G
NP_001188408.1:p.Asn999Asp
NM_016069.11:c.226A>G
NG_016391.2:g.31225T>C
Position
Human AssemblyChrPosition (strand)Source
GRCh38164,340,985 - 4,340,985CLINVAR
GRCh37164,390,986 - 4,390,986CLINVAR
Cytogenetic Map1616p13.3CLINVAR
Age Of Onset: antenatal
Prevalence: <1 / 1 000 000



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 10041664
Created: 2015-05-12
Species: Homo sapiens
Last Modified: 2020-01-07
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.