ClinVar

NM_001386936.1(SIPA1L1):c.113G>A (p.Arg38His)

Gene:

SIPA1L1:signal induced proliferation associated 1 like 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q24.2

Genomic location:

• Chr14: 71587985 (on Assembly GRCh38)
• Chr14: 72054702 (on Assembly GRCh37)

Preferred name:

NM_001386936.1(SIPA1L1):c.113G>A (p.Arg38His)

HGVS:

• NC_000014.9:g.71587985G>A
• NM_001284245.3:c.113G>A
• NM_001284246.2:c.113G>A
• NM_001284247.3:c.113G>A
• NM_001354285.2:c.113G>A
• NM_001354286.2:c.113G>A
• NM_001354287.2:c.113G>A
• NM_001354288.2:c.113G>A
• NM_001354289.2:c.17-30772G>A
• NM_001386936.1:c.113G>AMANE SELECT
• NM_015556.4:c.113G>A
• NP_001271174.1:p.Arg38His
• NP_001271175.1:p.Arg38His
• NP_001271176.1:p.Arg38His
• NP_001341214.1:p.Arg38His
• NP_001341215.1:p.Arg38His
• NP_001341216.1:p.Arg38His
• NP_001341217.1:p.Arg38His
• NP_001373865.1:p.Arg38His
• NP_056371.1:p.Arg38His
• NC_000014.8:g.72054702G>A
• NM_015556.1:c.113G>A

This HGVS expression did not pass validation

Protein change:

R38H

Molecular consequence:

• NM_001354289.2:c.17-30772G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001284245.3:c.113G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001284246.2:c.113G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001284247.3:c.113G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354285.2:c.113G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354286.2:c.113G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354287.2:c.113G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354288.2:c.113G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001386936.1:c.113G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_015556.4:c.113G>A - missense variant - [Sequence Ontology: SO:0001583]