ClinVar

NM_019590.5(KIAA1217):c.1550C>T (p.Thr517Ile)

Gene:

KIAA1217:KIAA1217 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10p12.1

Genomic location:

• Chr10: 24473931 (on Assembly GRCh38)
• Chr10: 24762860 (on Assembly GRCh37)

Preferred name:

NM_019590.5(KIAA1217):c.1550C>T (p.Thr517Ile)

HGVS:

• NC_000010.11:g.24473931C>T
• NM_001098500.3:c.1310C>T
• NM_001282767.2:c.1550C>T
• NM_001282768.2:c.1550C>T
• NM_001282769.2:c.704C>T
• NM_001282770.2:c.704C>T
• NM_001321681.2:c.704C>T
• NM_019590.5:c.1550C>TMANE SELECT
• NP_001091970.1:p.Thr437Ile
• NP_001269696.1:p.Thr517Ile
• NP_001269697.1:p.Thr517Ile
• NP_001269698.1:p.Thr235Ile
• NP_001269699.1:p.Thr235Ile
• NP_001308610.1:p.Thr235Ile
• NP_062536.2:p.Thr517Ile
• NC_000010.10:g.24762860C>T
• NM_019590.3:c.1550C>T

This HGVS expression did not pass validation

Protein change:

T235I

Molecular consequence:

• NM_001098500.3:c.1310C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282767.2:c.1550C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282768.2:c.1550C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282769.2:c.704C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282770.2:c.704C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001321681.2:c.704C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_019590.5:c.1550C>T - missense variant - [Sequence Ontology: SO:0001583]