ClinVar

NM_000488.4(SERPINC1):c.778A>T (p.Lys260Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q25.1

Genomic location:

• Chr1: 173909927 (on Assembly GRCh38)
• Chr1: 173879065 (on Assembly GRCh37)

Preferred name:

NM_000488.4(SERPINC1):c.778A>T (p.Lys260Ter)

Other names:

NM_001386306.1:c.562A>T

HGVS:

• NC_000001.11:g.173909927T>A
• NG_012462.1:g.12452A>T
• NM_000488.4:c.778A>TMANE SELECT
• NM_001365052.2:c.634A>T
• NM_001386302.1:c.901A>T
• NM_001386303.1:c.859A>T
• NM_001386304.1:c.757A>T
• NM_001386305.1:c.763-42A>T
• NM_001386306.1:c.562A>T
• NP_000479.1:p.Lys260Ter
• NP_000479.1:p.Lys260Ter
• NP_001351981.1:p.Lys212Ter
• NP_001373231.1:p.Lys301Ter
• NP_001373232.1:p.Lys287Ter
• NP_001373233.1:p.Lys253Ter
• NP_001373235.1:p.Lys188Ter
• LRG_577t1:c.778A>T
• LRG_577:g.12452A>T
• LRG_577p1:p.Lys260Ter
• NC_000001.10:g.173879065T>A
• NM_000488.3:c.778A>T

This HGVS expression did not pass validation

Protein change:

K188*

Molecular consequence:

• NM_001386305.1:c.763-42A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_000488.4:c.778A>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001365052.2:c.634A>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001386302.1:c.901A>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001386303.1:c.859A>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001386304.1:c.757A>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001386306.1:c.562A>T - nonsense - [Sequence Ontology: SO:0001587]