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Variant : CV32852 (NM_001082971.2(DDC):c.272C>T (p.Ala91Val)) Homo sapiens

Symbol: CV32852
Name: NM_001082971.2(DDC):c.272C>T (p.Ala91Val)
Condition: Deficiency of aromatic-L-amino-acid decarboxylase [RCV000019391]
Clinical Significance: pathogenic
Last Evaluated: 06/06/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: DDC   DDC-AS1  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: missense|intron|non-coding transcript variant|intron variant
Evidence: literature only
HGVS Name(s): NM_001242886.1:c.202-1979C>T
NG_008742.1:g.30499C>T
NC_000007.14:g.50539958G>A
NC_000007.13:g.50607656G>A
P20711:p.Ala91Val
NM_001242888.2:c.201+3927C>T
NM_000790.4:c.272C>T
NM_001082971.2:c.272C>T
NM_001242887.1:c.272C>T
NM_001242889.1:c.272C>T
NM_001242890.2:c.272C>T
NR_033845.1:n.306G>A
NP_000781.2:p.Ala91Val
NP_001076440.2:p.Ala91Val
NP_001229816.1:p.Ala91Val
NP_001229818.1:p.Ala91Val
NP_001229819.2:p.Ala91Val
Position
Human AssemblyChrPosition (strand)Source
GRCh38750,539,958 - 50,539,958CLINVAR
GRCh37750,607,656 - 50,607,656CLINVAR
Cytogenetic Map77p12.1CLINVAR
Age Of Onset: neonatal/infancy
Prevalence: <1 / 1 000 000



Disease Annotations
References - curated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8600755
Created: 2014-05-13
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.