ClinVar

NM_004425.4(ECM1):c.1393-182T>C

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q21.2

Genomic location:

• Chr1: 150513055 (on Assembly GRCh38)
• Chr1: 150485531 (on Assembly GRCh37)

Preferred name:

NM_004425.4(ECM1):c.1393-182T>C

HGVS:

• NC_000001.11:g.150513055T>C
• NG_012062.1:g.10045T>C
• NM_001202858.2:c.1474-182T>C
• NM_004425.4:c.1393-182T>CMANE SELECT
• NM_022664.3:c.1018-182T>C
• NC_000001.10:g.150485531T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs945715

NCBI 1000 Genomes Browser:

rs945715

Molecular consequence:

• NM_001202858.2:c.1474-182T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_004425.4:c.1393-182T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_022664.3:c.1018-182T>C - intron variant - [Sequence Ontology: SO:0001627]