ClinVar

NM_001082971.2(DDC):c.1435A>G (p.Arg479Gly)

Gene:

DDC:dopa decarboxylase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p12.2

Genomic location:

• Chr7: 50463239 (on Assembly GRCh38)
• Chr7: 50530937 (on Assembly GRCh37)

Preferred name:

NM_001082971.2(DDC):c.1435A>G (p.Arg479Gly)

HGVS:

• NC_000007.14:g.50463239T>C
• NG_008742.1:g.107218A>G
• NM_000790.3:c.1435A>G
• NM_000790.4:c.1435A>G
• NM_001082971.2:c.1435A>GMANE SELECT
• NM_001242886.2:c.1321A>G
• NM_001242887.2:c.1291A>G
• NM_001242888.2:c.1201A>G
• NM_001242889.2:c.1156A>G
• NP_000781.2:p.Arg479Gly
• NP_001076440.2:p.Arg479Gly
• NP_001229815.2:p.Arg441Gly
• NP_001229816.2:p.Arg431Gly
• NP_001229817.2:p.Arg401Gly
• NP_001229818.2:p.Arg386Gly
• NC_000007.13:g.50530937T>C
• NM_001082971.1:c.1435A>G

This HGVS expression did not pass validation

Protein change:

R386G

Links:

dbSNP: rs200450773

NCBI 1000 Genomes Browser:

rs200450773

Molecular consequence:

• NM_000790.4:c.1435A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001082971.2:c.1435A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001242886.2:c.1321A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001242887.2:c.1291A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001242888.2:c.1201A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001242889.2:c.1156A>G - missense variant - [Sequence Ontology: SO:0001583]