ClinVar

NM_000488.4(SERPINC1):c.408+174T>A

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q25.1

Genomic location:

• Chr1: 173914379 (on Assembly GRCh38)
• Chr1: 173883517 (on Assembly GRCh37)

Preferred name:

NM_000488.4(SERPINC1):c.408+174T>A

HGVS:

• NC_000001.11:g.173914379A>T
• NG_012462.1:g.8000T>A
• NM_000488.4:c.408+174T>AMANE SELECT
• NM_001365052.2:c.264+174T>A
• NM_001386302.1:c.408+174T>A
• NM_001386303.1:c.489+174T>A
• NM_001386304.1:c.408+174T>A
• NM_001386305.1:c.408+174T>A
• NM_001386306.1:c.408+174T>A
• LRG_577:g.8000T>A
• NC_000001.10:g.173883517A>T

This HGVS expression did not pass validation

Links:

dbSNP: rs56288561

NCBI 1000 Genomes Browser:

rs56288561

Molecular consequence:

• NM_000488.4:c.408+174T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001365052.2:c.264+174T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001386302.1:c.408+174T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001386303.1:c.489+174T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001386304.1:c.408+174T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001386305.1:c.408+174T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001386306.1:c.408+174T>A - intron variant - [Sequence Ontology: SO:0001627]