ClinVar

NM_001386936.1(SIPA1L1):c.3119C>G (p.Thr1040Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

14q24.2

Genomic location:

• Chr14: 71685376 (on Assembly GRCh38)
• Chr14: 72152093 (on Assembly GRCh37)

Preferred name:

NM_001386936.1(SIPA1L1):c.3119C>G (p.Thr1040Ser)

HGVS:

• NC_000014.9:g.71685376C>G
• NM_001284245.3:c.3119C>G
• NM_001284246.2:c.3119C>G
• NM_001284247.3:c.3119C>G
• NM_001354285.2:c.3119C>G
• NM_001354286.2:c.3119C>G
• NM_001354287.2:c.3119C>G
• NM_001354288.2:c.3119C>G
• NM_001354289.2:c.1637C>G
• NM_001386936.1:c.3119C>GMANE SELECT
• NM_015556.4:c.3119C>G
• NP_001271174.1:p.Thr1040Ser
• NP_001271175.1:p.Thr1040Ser
• NP_001271176.1:p.Thr1040Ser
• NP_001341214.1:p.Thr1040Ser
• NP_001341215.1:p.Thr1040Ser
• NP_001341216.1:p.Thr1040Ser
• NP_001341217.1:p.Thr1040Ser
• NP_001341218.1:p.Thr546Ser
• NP_001373865.1:p.Thr1040Ser
• NP_056371.1:p.Thr1040Ser
• NC_000014.8:g.72152093C>G
• NM_015556.1:c.3119C>G

This HGVS expression did not pass validation

Protein change:

T1040S

Molecular consequence:

• NM_001284245.3:c.3119C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001284246.2:c.3119C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001284247.3:c.3119C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354285.2:c.3119C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354286.2:c.3119C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354287.2:c.3119C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354288.2:c.3119C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354289.2:c.1637C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001386936.1:c.3119C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_015556.4:c.3119C>G - missense variant - [Sequence Ontology: SO:0001583]