ClinVar

NM_020738.4(KIDINS220):c.3673C>T (p.Leu1225=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2p25.1

Genomic location:

• Chr2: 8736912 (on Assembly GRCh38)
• Chr2: 8877042 (on Assembly GRCh37)

Preferred name:

NM_020738.4(KIDINS220):c.3673C>T (p.Leu1225=)

HGVS:

• NC_000002.12:g.8736912G>A
• NG_053168.1:g.105728C>T
• NM_001348729.2:c.3676C>T
• NM_001348731.2:c.3619C>T
• NM_001348732.2:c.3616C>T
• NM_001348734.2:c.3505C>T
• NM_001348735.2:c.3502C>T
• NM_001348736.2:c.3376C>T
• NM_001348738.2:c.3616C>T
• NM_001348739.2:c.3505C>T
• NM_001348740.2:c.3505C>T
• NM_001348741.2:c.3502C>T
• NM_001348742.2:c.3502C>T
• NM_001348743.2:c.3502C>T
• NM_020738.4:c.3673C>TMANE SELECT
• NP_001335658.1:p.Leu1226=
• NP_001335660.1:p.Leu1207=
• NP_001335661.1:p.Leu1206=
• NP_001335663.1:p.Leu1169=
• NP_001335664.1:p.Leu1168=
• NP_001335665.1:p.Leu1126=
• NP_001335667.1:p.Leu1206=
• NP_001335668.1:p.Leu1169=
• NP_001335669.1:p.Leu1169=
• NP_001335670.1:p.Leu1168=
• NP_001335671.1:p.Leu1168=
• NP_001335672.1:p.Leu1168=
• NP_065789.1:p.Leu1225=
• NC_000002.11:g.8877042G>A
• NM_020738.2:c.3673C>T
• NR_145964.2:n.3846C>T
• NR_145965.2:n.3672C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs61742863

NCBI 1000 Genomes Browser:

rs61742863

Molecular consequence:

• NR_145964.2:n.3846C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_145965.2:n.3672C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001348729.2:c.3676C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001348731.2:c.3619C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001348732.2:c.3616C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001348734.2:c.3505C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001348735.2:c.3502C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001348736.2:c.3376C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001348738.2:c.3616C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001348739.2:c.3505C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001348740.2:c.3505C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001348741.2:c.3502C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001348742.2:c.3502C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001348743.2:c.3502C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_020738.4:c.3673C>T - synonymous variant - [Sequence Ontology: SO:0001819]