ClinVar

NM_002230.4(JUP):c.286G>A (p.Glu96Lys)

Gene:

JUP:junction plakoglobin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.2

Genomic location:

• Chr17: 41769600 (on Assembly GRCh38)
• Chr17: 39925852 (on Assembly GRCh37)

Preferred name:

NM_002230.4(JUP):c.286G>A (p.Glu96Lys)

Other names:

p.E96K:GAG>AAG

HGVS:

• NC_000017.11:g.41769600C>T
• NG_009090.2:g.22113G>A
• NM_001352773.2:c.286G>A
• NM_001352774.2:c.286G>A
• NM_001352775.2:c.286G>A
• NM_001352776.2:c.286G>A
• NM_001352777.2:c.286G>A
• NM_002230.4:c.286G>AMANE SELECT
• NM_021991.4:c.286G>A
• NP_001339702.1:p.Glu96Lys
• NP_001339703.1:p.Glu96Lys
• NP_001339704.1:p.Glu96Lys
• NP_001339705.1:p.Glu96Lys
• NP_001339706.1:p.Glu96Lys
• NP_002221.1:p.Glu96Lys
• NP_068831.1:p.Glu96Lys
• LRG_401t1:c.286G>A
• LRG_401t2:c.286G>A
• LRG_401:g.22113G>A
• NC_000017.10:g.39925852C>T
• NM_002230.2:c.286G>A
• NM_021991.2:c.286G>A

This HGVS expression did not pass validation

Protein change:

E96K

Links:

dbSNP: rs191683892

NCBI 1000 Genomes Browser:

rs191683892

Molecular consequence:

• NM_001352773.2:c.286G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001352774.2:c.286G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001352775.2:c.286G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001352776.2:c.286G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001352777.2:c.286G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_002230.4:c.286G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_021991.4:c.286G>A - missense variant - [Sequence Ontology: SO:0001583]