ClinVar

NM_000132.4(F8):c.6724G>A (p.Val2242Met)

Gene:

F8:coagulation factor VIII [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

• ChrX: 154860608 (on Assembly GRCh38)
• ChrX: 154088883 (on Assembly GRCh37)

Preferred name:

NM_000132.4(F8):c.6724G>A (p.Val2242Met)

HGVS:

• NC_000023.11:g.154860608C>T
• NG_011403.1:g.167116G>A
• NG_011403.2:g.167116G>A
• NM_000132.4:c.6724G>AMANE SELECT
• NM_019863.3:c.319G>A
• NP_000123.1:p.Val2242Met
• NP_000123.1:p.Val2242Met
• NP_063916.1:p.Val107Met
• LRG_555t1:c.6724G>A
• LRG_555:g.167116G>A
• LRG_555p1:p.Val2242Met
• NC_000023.10:g.154088883C>T
• NM_000132.3:c.6724G>A

This HGVS expression did not pass validation

Protein change:

V107M

Links:

dbSNP: rs782654096

NCBI 1000 Genomes Browser:

rs782654096

Molecular consequence:

• NM_000132.4:c.6724G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_019863.3:c.319G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

3