ClinVar

NM_001082971.2(DDC):c.424G>A (p.Gly142Arg)

Genes:

DDC-AS1:DDC antisense RNA 1 [Gene - HGNC]
DDC:dopa decarboxylase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p12.1

Genomic location:

• Chr7: 50537871 (on Assembly GRCh38)
• Chr7: 50605569 (on Assembly GRCh37)

Preferred name:

NM_001082971.2(DDC):c.424G>A (p.Gly142Arg)

HGVS:

• NC_000007.14:g.50537871C>T
• NG_008742.1:g.32586G>A
• NM_000790.4:c.424G>A
• NM_001082971.2:c.424G>AMANE SELECT
• NM_001242886.2:c.310G>A
• NM_001242887.2:c.424G>A
• NM_001242888.2:c.201+6014G>A
• NM_001242889.2:c.424G>A
• NM_001242890.2:c.424G>A
• NP_000781.2:p.Gly142Arg
• NP_001076440.2:p.Gly142Arg
• NP_001229815.2:p.Gly104Arg
• NP_001229816.2:p.Gly142Arg
• NP_001229818.2:p.Gly142Arg
• NP_001229819.2:p.Gly142Arg
• NC_000007.13:g.50605569C>T
• NM_000790.3:c.424G>A

This HGVS expression did not pass validation

Protein change:

G104R

Links:

dbSNP: rs757220196

NCBI 1000 Genomes Browser:

rs757220196

Molecular consequence:

• NM_001242888.2:c.201+6014G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_000790.4:c.424G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001082971.2:c.424G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001242886.2:c.310G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001242887.2:c.424G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001242889.2:c.424G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001242890.2:c.424G>A - missense variant - [Sequence Ontology: SO:0001583]