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Variant : CV194327 (NM_001082971.2(DDC):c.435+6G>T) Homo sapiens

Symbol: CV194327
Name: NM_001082971.2(DDC):c.435+6G>T
Condition: Deficiency of aromatic-L-amino-acid decarboxylase [RCV000336493]|not specified [RCV000178129]
Clinical Significance: uncertain significance
Last Evaluated: 07/31/2018
Review Status: criteria provided, multiple submitters, no conflicts|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.32603G>T
NC_000007.14:g.50537854C>A
NC_000007.13:g.50605552C>A
NM_001242888.2:c.201+6031G>T
NM_001242886.1:c.321+6G>T
NM_000790.4:c.435+6G>T
NM_001082971.2:c.435+6G>T
NM_001242887.1:c.435+6G>T
NM_001242889.1:c.435+6G>T
NM_001242890.2:c.435+6G>T
NM_000790.3:c.435+6G>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38750,537,854 - 50,537,854CLINVAR
GRCh37750,605,552 - 50,605,552CLINVAR
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: 10052103
Created: 2015-07-14
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.