ClinVar

NM_001082971.2(DDC):c.714+14C>T

Gene:

DDC:dopa decarboxylase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p12.1

Genomic location:

• Chr7: 50528123 (on Assembly GRCh38)
• Chr7: 50595821 (on Assembly GRCh37)

Preferred name:

NM_001082971.2(DDC):c.714+14C>T

HGVS:

• NC_000007.14:g.50528123G>A
• NG_008742.1:g.42334C>T
• NG_008742.2:g.42282C>T
• NM_000790.4:c.714+14C>T
• NM_001082971.2:c.714+14C>TMANE SELECT
• NM_001242886.2:c.600+14C>T
• NM_001242887.2:c.570+1085C>T
• NM_001242888.2:c.480+14C>T
• NM_001242889.2:c.435+9737C>T
• NM_001242890.2:c.714+14C>T
• NC_000007.13:g.50595821G>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_000790.4:c.714+14C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001082971.2:c.714+14C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001242886.2:c.600+14C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001242887.2:c.570+1085C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001242888.2:c.480+14C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001242889.2:c.435+9737C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001242890.2:c.714+14C>T - intron variant - [Sequence Ontology: SO:0001627]