ClinVar

NM_001082971.2(DDC):c.255G>A (p.Ser85=)

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: 50539975 (on Assembly GRCh38)
• Chr7: 50607673 (on Assembly GRCh37)

Preferred name:

NM_001082971.2(DDC):c.255G>A (p.Ser85=)

HGVS:

• NC_000007.14:g.50539975C>T
• NG_008742.1:g.30482G>A
• NM_000790.4:c.255G>A
• NM_001082971.2:c.255G>AMANE SELECT
• NM_001242886.2:c.202-1996G>A
• NM_001242887.2:c.255G>A
• NM_001242888.2:c.201+3910G>A
• NM_001242889.2:c.255G>A
• NM_001242890.2:c.255G>A
• NP_000781.2:p.Ser85=
• NP_001076440.2:p.Ser85=
• NP_001229816.2:p.Ser85=
• NP_001229818.2:p.Ser85=
• NP_001229819.2:p.Ser85=
• NC_000007.13:g.50607673C>T
• NC_000007.13:g.50607673C>T
• NM_000790.3:c.255G>A
• NR_033845.1:n.323C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs367959876

NCBI 1000 Genomes Browser:

rs367959876

Molecular consequence:

• NM_001242886.2:c.202-1996G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001242888.2:c.201+3910G>A - intron variant - [Sequence Ontology: SO:0001627]
• NR_033845.1:n.323C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_000790.4:c.255G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001082971.2:c.255G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001242887.2:c.255G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001242889.2:c.255G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001242890.2:c.255G>A - synonymous variant - [Sequence Ontology: SO:0001819]