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Variant : CV311354 (NM_001082971.2(DDC):c.366C>T (p.Leu122=)) Homo sapiens

Symbol: CV311354
Name: NM_001082971.2(DDC):c.366C>T (p.Leu122=)
Condition: Deficiency of aromatic-L-amino-acid decarboxylase [RCV000287219]|not provided [RCV000892184]
Clinical Significance: likely benign|uncertain significance
Last Evaluated: 05/24/2018
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): NG_008742.1:g.32528C>T
NC_000007.14:g.50537929G>A
NC_000007.13:g.50605627G>A
NM_001242888.2:c.201+5956C>T
NM_001242886.1:c.252C>T
NM_000790.4:c.366C>T
NM_001082971.2:c.366C>T
NM_001242887.1:c.366C>T
NM_001242889.1:c.366C>T
NM_001242890.2:c.366C>T
NM_000790.3:c.366C>T
NP_000781.2:p.Leu122=
NP_001076440.2:p.Leu122=
NP_001229816.1:p.Leu122=
NP_001229818.1:p.Leu122=
NP_001229819.2:p.Leu122=
NP_001229815.1:p.Leu84=
Position
Human AssemblyChrPosition (strand)Source
GRCh38750,537,929 - 50,537,929CLINVAR
GRCh37750,605,627 - 50,605,627CLINVAR
Cytogenetic Map77p12.1CLINVAR
Age Of Onset: infancy
Prevalence: <1 / 1 000 000



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11602033
Created: 2017-01-11
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.