ClinVar

NM_001082971.2(DDC):c.455C>A (p.Thr152Asn)

Gene:

DDC:dopa decarboxylase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p12.1

Genomic location:

• Chr7: 50529323 (on Assembly GRCh38)
• Chr7: 50597021 (on Assembly GRCh37)

Preferred name:

NM_001082971.2(DDC):c.455C>A (p.Thr152Asn)

HGVS:

• NC_000007.14:g.50529323G>T
• NG_008742.1:g.41134C>A
• NM_000790.4:c.455C>A
• NM_001082971.2:c.455C>AMANE SELECT
• NM_001242886.2:c.341C>A
• NM_001242887.2:c.455C>A
• NM_001242888.2:c.221C>A
• NM_001242889.2:c.435+8537C>A
• NM_001242890.2:c.455C>A
• NP_000781.2:p.Thr152Asn
• NP_001076440.2:p.Thr152Asn
• NP_001229815.2:p.Thr114Asn
• NP_001229816.2:p.Thr152Asn
• NP_001229817.2:p.Thr74Asn
• NP_001229819.2:p.Thr152Asn
• NC_000007.13:g.50597021G>T
• NM_000790.3:c.455C>A

This HGVS expression did not pass validation

Protein change:

T114N

Links:

dbSNP: rs571159150

NCBI 1000 Genomes Browser:

rs571159150

Molecular consequence:

• NM_001242889.2:c.435+8537C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_000790.4:c.455C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001082971.2:c.455C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001242886.2:c.341C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001242887.2:c.455C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001242888.2:c.221C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001242890.2:c.455C>A - missense variant - [Sequence Ontology: SO:0001583]