ClinVar

NM_001002030.2(ECHDC1):c.890G>A (p.Gly297Glu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

6q22.33

Genomic location:

• Chr6: 127289885 (on Assembly GRCh38)
• Chr6: 127611030 (on Assembly GRCh37)

Preferred name:

NM_001002030.2(ECHDC1):c.890G>A (p.Gly297Glu)

HGVS:

• NC_000006.12:g.127289885C>T
• NM_001002030.2:c.890G>AMANE SELECT
• NM_001105544.2:c.665G>A
• NM_001105545.2:c.*399G>A
• NM_001139510.2:c.908G>A
• NM_018479.4:c.*399G>A
• NP_001002030.1:p.Gly297Glu
• NP_001099014.1:p.Gly222Glu
• NP_001132982.1:p.Gly303Glu
• NC_000006.11:g.127611030C>T
• NM_001139510.1:c.908G>A

This HGVS expression did not pass validation

Protein change:

G222E

Molecular consequence:

• NM_001105545.2:c.*399G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_018479.4:c.*399G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001002030.2:c.890G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001105544.2:c.665G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001139510.2:c.908G>A - missense variant - [Sequence Ontology: SO:0001583]