ClinVar

NM_001082971.2(DDC):c.120G>A (p.Pro40=)

Gene:

DDC:dopa decarboxylase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p12.1

Genomic location:

• Chr7: 50543966 (on Assembly GRCh38)
• Chr7: 50611664 (on Assembly GRCh37)

Preferred name:

NM_001082971.2(DDC):c.120G>A (p.Pro40=)

HGVS:

• NC_000007.14:g.50543966C>T
• NG_008742.1:g.26491G>A
• NM_000790.4:c.120G>A
• NM_001082971.2:c.120G>AMANE SELECT
• NM_001242886.2:c.120G>A
• NM_001242887.2:c.120G>A
• NM_001242888.2:c.120G>A
• NM_001242889.2:c.120G>A
• NM_001242890.2:c.120G>A
• NP_000781.2:p.Pro40=
• NP_001076440.2:p.Pro40=
• NP_001229815.2:p.Pro40=
• NP_001229816.2:p.Pro40=
• NP_001229817.2:p.Pro40=
• NP_001229818.2:p.Pro40=
• NP_001229819.2:p.Pro40=
• NC_000007.13:g.50611664C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs373640169

NCBI 1000 Genomes Browser:

rs373640169

Molecular consequence:

• NM_000790.4:c.120G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001082971.2:c.120G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001242886.2:c.120G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001242887.2:c.120G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001242888.2:c.120G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001242889.2:c.120G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001242890.2:c.120G>A - synonymous variant - [Sequence Ontology: SO:0001819]