ClinVar

NM_001321759.2(CDIN1):c.185C>T (p.Ser62Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

15q14

Genomic location:

• Chr15: 36645260 (on Assembly GRCh38)
• Chr15: 36937461 (on Assembly GRCh37)

Preferred name:

NM_001321759.2(CDIN1):c.185C>T (p.Ser62Leu)

HGVS:

• NC_000015.10:g.36645260C>T
• NG_034055.1:g.70658C>T
• NM_001130010.3:c.185C>T
• NM_001290232.2:c.-110C>T
• NM_001290233.2:c.185C>T
• NM_001321756.2:c.-110C>T
• NM_001321757.2:c.-219C>T
• NM_001321758.2:c.102-8838C>T
• NM_001321759.2:c.185C>TMANE SELECT
• NM_001321760.2:c.185C>T
• NM_001321761.2:c.185C>T
• NM_032499.6:c.-110C>T
• NP_001123482.1:p.Ser62Leu
• NP_001277162.1:p.Ser62Leu
• NP_001308688.1:p.Ser62Leu
• NP_001308689.1:p.Ser62Leu
• NP_001308690.1:p.Ser62Leu
• NC_000015.9:g.36937461C>T
• NC_000015.9:g.36937461C>T
• NM_001130010.2:c.185C>T

This HGVS expression did not pass validation

Protein change:

S62L

Links:

dbSNP: rs139465273

NCBI 1000 Genomes Browser:

rs139465273

Molecular consequence:

• NM_001290232.2:c.-110C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001321756.2:c.-110C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001321757.2:c.-219C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_032499.6:c.-110C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001321758.2:c.102-8838C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001130010.3:c.185C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001290233.2:c.185C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001321759.2:c.185C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001321760.2:c.185C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001321761.2:c.185C>T - missense variant - [Sequence Ontology: SO:0001583]