ClinVar

NM_031475.3(ESPN):c.1048C>T (p.Pro350Ser)

Gene:

ESPN:espin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.31

Genomic location:

• Chr1: 6444538 (on Assembly GRCh38)
• Chr1: 6504598 (on Assembly GRCh37)

Preferred name:

NM_031475.3(ESPN):c.1048C>T (p.Pro350Ser)

HGVS:

• NC_000001.11:g.6444538C>T
• NG_015866.1:g.24751C>T
• NM_001367473.1:c.1048C>T
• NM_001367474.1:c.1048C>T
• NM_031475.3:c.1048C>TMANE SELECT
• NP_001354402.1:p.Pro350Ser
• NP_001354403.1:p.Pro350Ser
• NP_113663.2:p.Pro350Ser
• LRG_1281t1:c.1048C>T
• LRG_1281:g.24751C>T
• LRG_1281p1:p.Pro350Ser
• NC_000001.10:g.6504598C>T
• NM_031475.2:c.1048C>T

This HGVS expression did not pass validation

Protein change:

P350S

Links:

dbSNP: rs115143295

NCBI 1000 Genomes Browser:

rs115143295

Molecular consequence:

• NM_001367473.1:c.1048C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001367474.1:c.1048C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_031475.3:c.1048C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

2