ClinVar

NM_000488.4(SERPINC1):c.670A>T (p.Asn224Tyr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q25.1

Genomic location:

• Chr1: 173910846 (on Assembly GRCh38)
• Chr1: 173879984 (on Assembly GRCh37)

Preferred name:

NM_000488.4(SERPINC1):c.670A>T (p.Asn224Tyr)

HGVS:

• NC_000001.11:g.173910846T>A
• NG_012462.1:g.11533A>T
• NM_000488.4:c.670A>TMANE SELECT
• NM_001365052.2:c.526A>T
• NM_001386302.1:c.670A>T
• NM_001386303.1:c.751A>T
• NM_001386304.1:c.670A>T
• NM_001386305.1:c.670A>T
• NM_001386306.1:c.454A>T
• NP_000479.1:p.Asn224Tyr
• NP_000479.1:p.Asn224Tyr
• NP_001351981.1:p.Asn176Tyr
• NP_001373231.1:p.Asn224Tyr
• NP_001373232.1:p.Asn251Tyr
• NP_001373233.1:p.Asn224Tyr
• NP_001373234.1:p.Asn224Tyr
• NP_001373235.1:p.Asn152Tyr
• LRG_577t1:c.670A>T
• LRG_577:g.11533A>T
• LRG_577p1:p.Asn224Tyr
• NC_000001.10:g.173879984T>A
• NM_000488.3:c.670A>T

This HGVS expression did not pass validation

Protein change:

N152Y

Links:

dbSNP: rs146733468

NCBI 1000 Genomes Browser:

rs146733468

Molecular consequence:

• NM_000488.4:c.670A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001365052.2:c.526A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001386302.1:c.670A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001386303.1:c.751A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001386304.1:c.670A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001386305.1:c.670A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001386306.1:c.454A>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1