ClinVar

NM_001002030.2(ECHDC1):c.12T>A (p.Ser4Arg)

Gene:

ECHDC1:ethylmalonyl-CoA decarboxylase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6q22.33

Genomic location:

• Chr6: 127331017 (on Assembly GRCh38)
• Chr6: 127652162 (on Assembly GRCh37)

Preferred name:

NM_001002030.2(ECHDC1):c.12T>A (p.Ser4Arg)

HGVS:

• NC_000006.12:g.127331017A>T
• NM_001002030.2:c.12T>AMANE SELECT
• NM_001105544.2:c.-5-3873T>A
• NM_001105545.2:c.-5-3873T>A
• NM_001139510.2:c.30T>A
• NM_018479.4:c.12T>A
• NP_001002030.1:p.Ser4Arg
• NP_001132982.1:p.Ser10Arg
• NP_060949.2:p.Ser4Arg
• NC_000006.11:g.127652162A>T
• NM_001139510.1:c.30T>A

This HGVS expression did not pass validation

Protein change:

S10R

Molecular consequence:

• NM_001105544.2:c.-5-3873T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001105545.2:c.-5-3873T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001002030.2:c.12T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001139510.2:c.30T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_018479.4:c.12T>A - missense variant - [Sequence Ontology: SO:0001583]