ClinVar

NM_001375834.1(WIPF1):c.519G>A (p.Arg173=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.1

Genomic location:

• Chr2: 174572286 (on Assembly GRCh38)
• Chr2: 175437014 (on Assembly GRCh37)

Preferred name:

NM_001375834.1(WIPF1):c.519G>A (p.Arg173=)

HGVS:

• NC_000002.12:g.174572286C>T
• NG_032009.1:g.115614G>A
• NM_001077269.1:c.519G>A
• NM_001375832.1:c.519G>A
• NM_001375833.1:c.519G>A
• NM_001375834.1:c.519G>AMANE SELECT
• NM_001375835.1:c.519G>A
• NM_001375836.1:c.519G>A
• NM_001375837.1:c.519G>A
• NM_001375838.1:c.519G>A
• NM_001375839.1:c.182-41G>A
• NM_003387.5:c.519G>A
• NP_001070737.1:p.Arg173=
• NP_001362761.1:p.Arg173=
• NP_001362762.1:p.Arg173=
• NP_001362763.1:p.Arg173=
• NP_001362764.1:p.Arg173=
• NP_001362765.1:p.Arg173=
• NP_001362766.1:p.Arg173=
• NP_001362767.1:p.Arg173=
• NP_003378.3:p.Arg173=
• LRG_374t1:c.519G>A
• LRG_374:g.115614G>A
• LRG_374p1:p.Arg173=
• NC_000002.11:g.175437014C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs757656746

NCBI 1000 Genomes Browser:

rs757656746

Molecular consequence:

• NM_001375839.1:c.182-41G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001077269.1:c.519G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001375832.1:c.519G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001375833.1:c.519G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001375834.1:c.519G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001375835.1:c.519G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001375836.1:c.519G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001375837.1:c.519G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001375838.1:c.519G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_003387.5:c.519G>A - synonymous variant - [Sequence Ontology: SO:0001819]