ClinVar

NM_000488.4(SERPINC1):c.805G>A (p.Glu269Lys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q25.1

Genomic location:

• Chr1: 173909900 (on Assembly GRCh38)
• Chr1: 173879038 (on Assembly GRCh37)

Preferred name:

NM_000488.4(SERPINC1):c.805G>A (p.Glu269Lys)

Other names:

p.Glu269Lys

HGVS:

• NC_000001.11:g.173909900C>T
• NG_012462.1:g.12479G>A
• NM_000488.4:c.805G>AMANE SELECT
• NM_001365052.2:c.661G>A
• NM_001386302.1:c.928G>A
• NM_001386303.1:c.886G>A
• NM_001386304.1:c.784G>A
• NM_001386305.1:c.763-15G>A
• NM_001386306.1:c.589G>A
• NP_000479.1:p.Glu269Lys
• NP_000479.1:p.Glu269Lys
• NP_001351981.1:p.Glu221Lys
• NP_001373231.1:p.Glu310Lys
• NP_001373232.1:p.Glu296Lys
• NP_001373233.1:p.Glu262Lys
• NP_001373235.1:p.Glu197Lys
• LRG_577t1:c.805G>A
• LRG_577:g.12479G>A
• LRG_577p1:p.Glu269Lys
• NC_000001.10:g.173879038C>T
• NM_000488.3:c.805G>A

This HGVS expression did not pass validation

Protein change:

E197K

Links:

dbSNP: rs758087836

NCBI 1000 Genomes Browser:

rs758087836

Molecular consequence:

• NM_001386305.1:c.763-15G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_000488.4:c.805G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001365052.2:c.661G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001386302.1:c.928G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001386303.1:c.886G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001386304.1:c.784G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001386306.1:c.589G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

2