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Variant : CV248557 (NM_032138.7(KBTBD7):c.1496C>G (p.Pro499Arg)) Homo sapiens

Symbol: CV248557
Name: NM_032138.7(KBTBD7):c.1496C>G (p.Pro499Arg)
Condition: Oromandibular-limb hypogenesis spectrum [RCV000239815]
Clinical Significance: likely benign
Last Evaluated: 08/12/2016
Review Status: no assertion criteria provided
Related Genes: KBTBD7  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: research
HGVS Name(s): NC_000013.11:g.41192762G>C
NC_000013.10:g.41766898G>C
NP_115514.2:p.Pro499Arg
NM_032138.4:c.1496C>G
NG_053142.1:g.6823C>G
NM_032138.7:c.1496C>G
Position
Human AssemblyChrPosition (strand)Source
GRCh381341,192,762 - 41,192,762CLINVAR
GRCh371341,766,898 - 41,766,898CLINVAR
Cytogenetic Map1313q14.11CLINVAR
Trait Synonyms: Mobius Syndrome
Age Of Onset: neonatal



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11541266
Created: 2016-10-11
Species: Homo sapiens
Last Modified: 2020-03-24
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.