ClinVar

NM_004592.4(SFSWAP):c.2151C>T (p.Ser717=)

Gene:

SFSWAP:splicing factor SWAP [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q24.33

Genomic location:

• Chr12: 131778073 (on Assembly GRCh38)
• Chr12: 132262618 (on Assembly GRCh37)

Preferred name:

NM_004592.4(SFSWAP):c.2151C>T (p.Ser717=)

HGVS:

• NC_000012.12:g.131778073C>T
• NM_001261411.2:c.2151C>T
• NM_004592.4:c.2151C>TMANE SELECT
• NP_001248340.1:p.Ser717=
• NP_004583.2:p.Ser717=
• NC_000012.11:g.132262618C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001261411.2:c.2151C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004592.4:c.2151C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1