ClinVar

NM_001321759.2(CDIN1):c.307A>T (p.Ile103Leu)

Gene:

CDIN1:CDAN1 interacting nuclease 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q14

Genomic location:

• Chr15: 36657866 (on Assembly GRCh38)
• Chr15: 36950067 (on Assembly GRCh37)

Preferred name:

NM_001321759.2(CDIN1):c.307A>T (p.Ile103Leu)

Other names:

p.Ile103Leu

HGVS:

• NC_000015.10:g.36657866A>T
• NG_034055.1:g.83264A>T
• NM_001130010.3:c.307A>T
• NM_001290232.2:c.13A>T
• NM_001290233.2:c.307A>T
• NM_001321756.2:c.13A>T
• NM_001321757.2:c.-97A>T
• NM_001321758.2:c.196A>T
• NM_001321759.2:c.307A>TMANE SELECT
• NM_001321760.2:c.307A>T
• NM_001321761.2:c.307A>T
• NM_032499.6:c.13A>T
• NP_001123482.1:p.Ile103Leu
• NP_001277161.1:p.Ile5Leu
• NP_001277162.1:p.Ile103Leu
• NP_001308685.1:p.Ile5Leu
• NP_001308687.1:p.Ile66Leu
• NP_001308688.1:p.Ile103Leu
• NP_001308689.1:p.Ile103Leu
• NP_001308690.1:p.Ile103Leu
• NP_115888.1:p.Ile5Leu
• NC_000015.9:g.36950067A>T
• NM_001130010.1:c.307A>T

This HGVS expression did not pass validation

Protein change:

I103L

Molecular consequence:

• NM_001321757.2:c.-97A>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001130010.3:c.307A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001290232.2:c.13A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001290233.2:c.307A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001321756.2:c.13A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001321758.2:c.196A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001321759.2:c.307A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001321760.2:c.307A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001321761.2:c.307A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_032499.6:c.13A>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1