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

Variant : CV268907 (NM_001082971.2(DDC):c.420G>C (p.Gly140=)) Homo sapiens

Symbol: CV268907
Name: NM_001082971.2(DDC):c.420G>C (p.Gly140=)
Condition: not specified [RCV000303174]
Clinical Significance: uncertain significance
Last Evaluated: 11/16/2015
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.306G>C
NM_000790.4:c.420G>C
NM_001082971.2:c.420G>C
NM_001242887.1:c.420G>C
NP_000781.2:p.Gly140=
NP_001076440.2:p.Gly140=
NP_001229816.1:p.Gly140=
NP_001229818.1:p.Gly140=
NC_000007.13:g.50605573C>G
NG_008742.1:g.32582G>C
NC_000007.14:g.50537875C>G
NM_001242889.1:c.420G>C
NP_001229815.1:p.Gly102=
NP_001229819.2:p.Gly140=
NM_001242888.2:c.201+6010G>C
NM_001242890.2:c.420G>C
Position
Human AssemblyChrPosition (strand)Source
GRCh38750,537,875 - 50,537,875CLINVAR
GRCh37750,605,573 - 50,605,573CLINVAR
Cytogenetic Map77p12.1CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11638411
Created: 2017-01-11
Species: Homo sapiens
Last Modified: 2020-01-07
Status: ACTIVE



NHLBI Logo

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