ClinVar

NM_000504.4(F10):c.1247A>T (p.Gln416Leu)

Gene:

F10:coagulation factor X [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

13q34

Genomic location:

• Chr13: 113149297 (on Assembly GRCh38)
• Chr13: 113803611 (on Assembly GRCh37)

Preferred name:

NM_000504.4(F10):c.1247A>T (p.Gln416Leu)

HGVS:

• NC_000013.11:g.113149297A>T
• NG_009258.1:g.31499A>T
• NM_000504.4:c.1247A>TMANE SELECT
• NM_001312674.2:c.1115A>T
• NM_001312675.2:c.*238A>T
• NP_000495.1:p.Gln416Leu
• NP_001299603.1:p.Gln372Leu
• LRG_548t1:c.1247A>T
• LRG_548:g.31499A>T
• NC_000013.10:g.113803611A>T
• NM_000504.3:c.1247A>T
• p.Gln416Leu

This HGVS expression did not pass validation

Protein change:

Q372L

Links:

dbSNP: rs759544193

NCBI 1000 Genomes Browser:

rs759544193

Molecular consequence:

• NM_001312675.2:c.*238A>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_000504.4:c.1247A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001312674.2:c.1115A>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1