ClinVar

NM_001375834.1(WIPF1):c.393G>A (p.Pro131=)

Gene:

WIPF1:WAS/WASL interacting protein family member 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.1

Genomic location:

• Chr2: 174572412 (on Assembly GRCh38)
• Chr2: 175437140 (on Assembly GRCh37)

Preferred name:

NM_001375834.1(WIPF1):c.393G>A (p.Pro131=)

HGVS:

• NC_000002.12:g.174572412C>T
• NG_032009.1:g.115488G>A
• NM_001077269.1:c.393G>A
• NM_001375832.1:c.393G>A
• NM_001375833.1:c.393G>A
• NM_001375834.1:c.393G>AMANE SELECT
• NM_001375835.1:c.393G>A
• NM_001375836.1:c.393G>A
• NM_001375837.1:c.393G>A
• NM_001375838.1:c.393G>A
• NM_001375839.1:c.182-167G>A
• NM_003387.5:c.393G>A
• NP_001070737.1:p.Pro131=
• NP_001362761.1:p.Pro131=
• NP_001362762.1:p.Pro131=
• NP_001362763.1:p.Pro131=
• NP_001362764.1:p.Pro131=
• NP_001362765.1:p.Pro131=
• NP_001362766.1:p.Pro131=
• NP_001362767.1:p.Pro131=
• NP_003378.3:p.Pro131=
• LRG_374t1:c.393G>A
• LRG_374:g.115488G>A
• LRG_374p1:p.Pro131=
• NC_000002.11:g.175437140C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs138492962

NCBI 1000 Genomes Browser:

rs138492962

Molecular consequence:

• NM_001375839.1:c.182-167G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001077269.1:c.393G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001375832.1:c.393G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001375833.1:c.393G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001375834.1:c.393G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001375835.1:c.393G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001375836.1:c.393G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001375837.1:c.393G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001375838.1:c.393G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_003387.5:c.393G>A - synonymous variant - [Sequence Ontology: SO:0001819]