ClinVar

NM_000488.4(SERPINC1):c.1315C>A (p.Pro439Thr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q25.1

Genomic location:

• Chr1: 173903969 (on Assembly GRCh38)
• Chr1: 173873107 (on Assembly GRCh37)

Preferred name:

NM_000488.4(SERPINC1):c.1315C>A (p.Pro439Thr)

Other names:

NM_000488.3(SERPINC1):c.1315C>A; p.Pro439Thr

HGVS:

• NC_000001.11:g.173903969G>T
• NG_012462.1:g.18410C>A
• NM_000488.4:c.1315C>AMANE SELECT
• NM_001365052.2:c.1171C>A
• NM_001386302.1:c.1438C>A
• NM_001386303.1:c.1396C>A
• NM_001386304.1:c.1294C>A
• NM_001386305.1:c.1258C>A
• NM_001386306.1:c.1099C>A
• NP_000479.1:p.Pro439Thr
• NP_000479.1:p.Pro439Thr
• NP_001351981.1:p.Pro391Thr
• NP_001373231.1:p.Pro480Thr
• NP_001373232.1:p.Pro466Thr
• NP_001373233.1:p.Pro432Thr
• NP_001373234.1:p.Pro420Thr
• NP_001373235.1:p.Pro367Thr
• LRG_577t1:c.1315C>A
• LRG_577:g.18410C>A
• LRG_577p1:p.Pro439Thr
• NC_000001.10:g.173873107G>T
• NC_000001.10:g.173873107G>T
• NM_000488.3:c.1315C>A

This HGVS expression did not pass validation

Protein change:

P367T

Links:

dbSNP: rs1487411568

NCBI 1000 Genomes Browser:

rs1487411568

Molecular consequence:

• NM_000488.4:c.1315C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001365052.2:c.1171C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001386302.1:c.1438C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001386303.1:c.1396C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001386304.1:c.1294C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001386305.1:c.1258C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001386306.1:c.1099C>A - missense variant - [Sequence Ontology: SO:0001583]