ClinVar

NM_002230.4(JUP):c.1224C>T (p.Leu408=)

Gene:

JUP:junction plakoglobin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.2

Genomic location:

• Chr17: 41763256 (on Assembly GRCh38)
• Chr17: 39919508 (on Assembly GRCh37)

Preferred name:

NM_002230.4(JUP):c.1224C>T (p.Leu408=)

Other names:

p.L408L:CTC>CTT

HGVS:

• NC_000017.11:g.41763256G>A
• NG_009090.2:g.28457C>T
• NM_001352773.2:c.1224C>T
• NM_001352774.2:c.1224C>T
• NM_001352775.2:c.1224C>T
• NM_001352776.2:c.1224C>T
• NM_001352777.2:c.1224C>T
• NM_002230.3:c.1224C>T
• NM_002230.4:c.1224C>TMANE SELECT
• NM_021991.4:c.1224C>T
• NP_001339702.1:p.Leu408=
• NP_001339703.1:p.Leu408=
• NP_001339704.1:p.Leu408=
• NP_001339705.1:p.Leu408=
• NP_001339706.1:p.Leu408=
• NP_002221.1:p.Leu408=
• NP_068831.1:p.Leu408=
• LRG_401t1:c.1224C>T
• LRG_401t2:c.1224C>T
• LRG_401:g.28457C>T
• NC_000017.10:g.39919508G>A
• NM_002230.2:c.1224C>T
• NM_021991.2:c.1224C>T
• c.1224C>T
• p.Leu408Leu

This HGVS expression did not pass validation

Links:

dbSNP: rs2230408

NCBI 1000 Genomes Browser:

rs2230408

Molecular consequence:

• NM_001352773.2:c.1224C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001352774.2:c.1224C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001352775.2:c.1224C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001352776.2:c.1224C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001352777.2:c.1224C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_002230.4:c.1224C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_021991.4:c.1224C>T - synonymous variant - [Sequence Ontology: SO:0001819]