ClinVar

NM_004425.4(ECM1):c.389C>T (p.Thr130Met)

Gene:

ECM1:extracellular matrix protein 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q21.2

Genomic location:

• Chr1: 150510879 (on Assembly GRCh38)
• Chr1: 150483355 (on Assembly GRCh37)

Preferred name:

NM_004425.4(ECM1):c.389C>T (p.Thr130Met)

HGVS:

• NC_000001.11:g.150510879C>T
• NG_012062.1:g.7869C>T
• NM_001202858.2:c.470C>T
• NM_004425.4:c.389C>TMANE SELECT
• NM_022664.3:c.389C>T
• NP_001189787.1:p.Thr157Met
• NP_004416.2:p.Thr130Met
• NP_073155.2:p.Thr130Met
• NC_000001.10:g.150483355C>T
• NM_004425.3:c.389C>T

This HGVS expression did not pass validation

Protein change:

T130M

Links:

dbSNP: rs3737240

NCBI 1000 Genomes Browser:

rs3737240

Molecular consequence:

• NM_001202858.2:c.470C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_004425.4:c.389C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_022664.3:c.389C>T - missense variant - [Sequence Ontology: SO:0001583]