ClinVar

NM_032977.4(CASP10):c.1309C>T (p.Leu437=)

Gene:

CASP10:caspase 10 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q33.1

Genomic location:

• Chr2: 201209456 (on Assembly GRCh38)
• Chr2: 202074179 (on Assembly GRCh37)

Preferred name:

NM_032977.4(CASP10):c.1309C>T (p.Leu437=)

HGVS:

• NC_000002.12:g.201209456C>T
• NG_007265.1:g.31325C>T
• NM_001206524.2:c.1108C>T
• NM_001206542.2:c.1180C>T
• NM_001230.5:c.1180C>T
• NM_032974.5:c.1309C>T
• NM_032976.4:c.*395C>T
• NM_032977.4:c.1309C>TMANE SELECT
• NP_001193453.1:p.Leu370=
• NP_001193471.1:p.Leu394=
• NP_001221.2:p.Leu394=
• NP_116756.2:p.Leu437=
• NP_116759.2:p.Leu437=
• NP_116759.2:p.Leu437=
• LRG_33t1:c.1309C>T
• LRG_33:g.31325C>T
• LRG_33p1:p.Leu437=
• NC_000002.11:g.202074179C>T
• NM_032977.3:c.1309C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_032976.4:c.*395C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001206524.2:c.1108C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001206542.2:c.1180C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001230.5:c.1180C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_032974.5:c.1309C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_032977.4:c.1309C>T - synonymous variant - [Sequence Ontology: SO:0001819]