ClinVar

NM_020738.4(KIDINS220):c.2593G>A (p.Val865Ile)

Gene:

KIDINS220:kinase D interacting substrate 220 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p25.1

Genomic location:

• Chr2: 8778917 (on Assembly GRCh38)
• Chr2: 8919047 (on Assembly GRCh37)

Preferred name:

NM_020738.4(KIDINS220):c.2593G>A (p.Val865Ile)

HGVS:

• NC_000002.12:g.8778917C>T
• NG_053168.2:g.63696G>A
• NM_001348729.2:c.2596G>A
• NM_001348731.2:c.2596G>A
• NM_001348732.2:c.2593G>A
• NM_001348734.2:c.2596G>A
• NM_001348735.2:c.2593G>A
• NM_001348736.2:c.2467G>A
• NM_001348738.2:c.2593G>A
• NM_001348739.2:c.2596G>A
• NM_001348740.2:c.2596G>A
• NM_001348741.2:c.2593G>A
• NM_001348742.2:c.2593G>A
• NM_001348743.2:c.2593G>A
• NM_001348745.2:c.2596G>A
• NM_020738.2:c.2593G>A
• NM_020738.4:c.2593G>AMANE SELECT
• NP_001335658.1:p.Val866Ile
• NP_001335660.1:p.Val866Ile
• NP_001335661.1:p.Val865Ile
• NP_001335663.1:p.Val866Ile
• NP_001335664.1:p.Val865Ile
• NP_001335665.1:p.Val823Ile
• NP_001335667.1:p.Val865Ile
• NP_001335668.1:p.Val866Ile
• NP_001335669.1:p.Val866Ile
• NP_001335670.1:p.Val865Ile
• NP_001335671.1:p.Val865Ile
• NP_001335672.1:p.Val865Ile
• NP_001335674.1:p.Val866Ile
• NP_065789.1:p.Val865Ile
• NC_000002.11:g.8919047C>T
• NG_053168.1:g.63723G>A
• NM_001348732.1:c.2593G>A
• NR_145964.2:n.2766G>A
• NR_145965.2:n.2763G>A

This HGVS expression did not pass validation

Protein change:

V823I

Molecular consequence:

• NM_001348729.2:c.2596G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001348731.2:c.2596G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001348732.2:c.2593G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001348734.2:c.2596G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001348735.2:c.2593G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001348736.2:c.2467G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001348738.2:c.2593G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001348739.2:c.2596G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001348740.2:c.2596G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001348741.2:c.2593G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001348742.2:c.2593G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001348743.2:c.2593G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001348745.2:c.2596G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_020738.4:c.2593G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_145964.2:n.2766G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_145965.2:n.2763G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

1