ClinVar

NM_001082971.2(DDC):c.1358G>A (p.Arg453His)

Gene:

DDC:dopa decarboxylase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p12.2

Genomic location:

• Chr7: 50463316 (on Assembly GRCh38)
• Chr7: 50531014 (on Assembly GRCh37)

Preferred name:

NM_001082971.2(DDC):c.1358G>A (p.Arg453His)

HGVS:

• NC_000007.14:g.50463316C>T
• NG_008742.1:g.107141G>A
• NM_000790.4:c.1358G>A
• NM_001082971.2:c.1358G>AMANE SELECT
• NM_001242886.2:c.1244G>A
• NM_001242887.2:c.1214G>A
• NM_001242888.2:c.1124G>A
• NM_001242889.2:c.1079G>A
• NP_000781.2:p.Arg453His
• NP_001076440.2:p.Arg453His
• NP_001229815.2:p.Arg415His
• NP_001229816.2:p.Arg405His
• NP_001229817.2:p.Arg375His
• NP_001229818.2:p.Arg360His
• NC_000007.13:g.50531014C>T
• NM_000790.3:c.1358G>A

This HGVS expression did not pass validation

Protein change:

R360H

Links:

dbSNP: rs770717871

NCBI 1000 Genomes Browser:

rs770717871

Molecular consequence:

• NM_000790.4:c.1358G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001082971.2:c.1358G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001242886.2:c.1244G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001242887.2:c.1214G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001242888.2:c.1124G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001242889.2:c.1079G>A - missense variant - [Sequence Ontology: SO:0001583]