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Variant : CV306464 (NM_001082971.2(DDC):c.265A>G (p.Met89Val)) Homo sapiens

Symbol: CV306464
Name: NM_001082971.2(DDC):c.265A>G (p.Met89Val)
Condition: Deficiency of aromatic-L-amino-acid decarboxylase [RCV000339933]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: DDC   DDC-AS1  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NM_001242886.1:c.202-1986A>G
NG_008742.1:g.30492A>G
NC_000007.14:g.50539965T>C
NC_000007.13:g.50607663T>C
NR_033845.1:n.313T>C
NP_001076440.2:p.Met89Val
NP_001229816.1:p.Met89Val
NP_001229818.1:p.Met89Val
NP_001229819.2:p.Met89Val
NM_001242888.2:c.201+3920A>G
NM_000790.4:c.265A>G
NM_001082971.2:c.265A>G
NM_001242887.1:c.265A>G
NM_001242889.1:c.265A>G
NM_001242890.2:c.265A>G
NM_000790.3:c.265A>G
NP_000781.2:p.Met89Val
Position
Human AssemblyChrPosition (strand)Source
GRCh38750,539,965 - 50,539,965CLINVAR
GRCh37750,607,663 - 50,607,663CLINVAR
Cytogenetic Map77p12.1CLINVAR
Age Of Onset: infancy
Prevalence: <1 / 1 000 000



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11657241
Created: 2017-01-11
Species: Homo sapiens
Last Modified: 2020-01-21
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.