Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV306465 (NM_001082971.2(DDC):c.234C>T (p.Ala78=)) Homo sapiens

Symbol: CV306465
Name: NM_001082971.2(DDC):c.234C>T (p.Ala78=)
Condition: Deficiency of aromatic-L-amino-acid decarboxylase [RCV000394914]
Clinical Significance: likely benign
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_001242889.1:c.234C>T
NM_001242890.2:c.234C>T
NR_033845.1:n.344G>A
NM_000790.3:c.234C>T
NP_000781.2:p.Ala78=
NM_001242886.1:c.202-2017C>T
NG_008742.1:g.30461C>T
NC_000007.14:g.50539996G>A
NC_000007.13:g.50607694G>A
NM_001242888.2:c.201+3889C>T
NP_001229816.1:p.Ala78=
NP_001229818.1:p.Ala78=
NP_001229819.2:p.Ala78=
NM_000790.4:c.234C>T
NM_001082971.2:c.234C>T
NM_001242887.1:c.234C>T
NP_001076440.2:p.Ala78=
Position
Human AssemblyChrPosition (strand)Source
GRCh38750,539,996 - 50,539,996CLINVAR
GRCh37750,607,694 - 50,607,694CLINVAR
Cytogenetic Map77p12.1CLINVAR
Age Of Onset: infancy
Prevalence: <1 / 1 000 000



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11611480
Created: 2017-01-11
Species: Homo sapiens
Last Modified: 2020-01-21
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.