ClinVar

NM_004826.4(ECEL1):c.1630C>T (p.Arg544Cys)

Gene:

ECEL1:endothelin converting enzyme like 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q37.1

Genomic location:

• Chr2: 232482906 (on Assembly GRCh38)
• Chr2: 233347616 (on Assembly GRCh37)

Preferred name:

NM_004826.4(ECEL1):c.1630C>T (p.Arg544Cys)

HGVS:

• NC_000002.12:g.232482906G>A
• NG_034065.1:g.9954C>T
• NM_001290787.2:c.1630C>T
• NM_004826.4:c.1630C>TMANE SELECT
• NP_001277716.1:p.Arg544Cys
• NP_004817.2:p.Arg544Cys
• NC_000002.11:g.233347616G>A
• NM_004826.2:c.1630C>T

This HGVS expression did not pass validation

Protein change:

R544C

Links:

dbSNP: rs753016147

NCBI 1000 Genomes Browser:

rs753016147

Molecular consequence:

• NM_001290787.2:c.1630C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_004826.4:c.1630C>T - missense variant - [Sequence Ontology: SO:0001583]