ClinVar

NM_032977.4(CASP10):c.1236C>T (p.Ile412=)

Gene:

CASP10:caspase 10 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q33.1

Genomic location:

• Chr2: 201209383 (on Assembly GRCh38)
• Chr2: 202074106 (on Assembly GRCh37)

Preferred name:

NM_032977.4(CASP10):c.1236C>T (p.Ile412=)

HGVS:

• NC_000002.12:g.201209383C>T
• NG_007265.1:g.31252C>T
• NM_001206524.2:c.1035C>T
• NM_001206542.2:c.1107C>T
• NM_001230.5:c.1107C>T
• NM_032974.5:c.1236C>T
• NM_032976.4:c.*322C>T
• NM_032977.4:c.1236C>TMANE SELECT
• NP_001193453.1:p.Ile345=
• NP_001193471.1:p.Ile369=
• NP_001221.2:p.Ile369=
• NP_116756.2:p.Ile412=
• NP_116759.2:p.Ile412=
• NP_116759.2:p.Ile412=
• LRG_33t1:c.1236C>T
• LRG_33:g.31252C>T
• LRG_33p1:p.Ile412=
• NC_000002.11:g.202074106C>T
• NM_032977.3:c.1236C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_032976.4:c.*322C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001206524.2:c.1035C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001206542.2:c.1107C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001230.5:c.1107C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_032974.5:c.1236C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_032977.4:c.1236C>T - synonymous variant - [Sequence Ontology: SO:0001819]