ClinVar

NM_000488.4(SERPINC1):c.624+185G>T

Gene:

SERPINC1:serpin family C member 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q25.1

Genomic location:

• Chr1: 173911614 (on Assembly GRCh38)
• Chr1: 173880752 (on Assembly GRCh37)

Preferred name:

NM_000488.4(SERPINC1):c.624+185G>T

HGVS:

• NC_000001.11:g.173911614C>A
• NG_012462.1:g.10765G>T
• NM_000488.4:c.624+185G>TMANE SELECT
• NM_001365052.2:c.480+185G>T
• NM_001386302.1:c.624+185G>T
• NM_001386303.1:c.705+185G>T
• NM_001386304.1:c.624+185G>T
• NM_001386305.1:c.624+185G>T
• NM_001386306.1:c.409-723G>T
• LRG_577:g.10765G>T
• NC_000001.10:g.173880752C>A

This HGVS expression did not pass validation

Links:

dbSNP: rs2227607

NCBI 1000 Genomes Browser:

rs2227607

Molecular consequence:

• NM_000488.4:c.624+185G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001365052.2:c.480+185G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001386302.1:c.624+185G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001386303.1:c.705+185G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001386304.1:c.624+185G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001386305.1:c.624+185G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001386306.1:c.409-723G>T - intron variant - [Sequence Ontology: SO:0001627]