ClinVar

NM_002230.4(JUP):c.1807G>T (p.Val603Leu)

Gene:

JUP:junction plakoglobin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.2

Genomic location:

• Chr17: 41757751 (on Assembly GRCh38)
• Chr17: 39914003 (on Assembly GRCh37)

Preferred name:

NM_002230.4(JUP):c.1807G>T (p.Val603Leu)

Other names:

p.V603L:GTG>TTG

HGVS:

• NC_000017.11:g.41757751C>A
• NG_009090.2:g.33962G>T
• NM_001352773.2:c.1807G>T
• NM_001352774.2:c.1807G>T
• NM_001352775.2:c.1807G>T
• NM_001352776.2:c.1807G>T
• NM_001352777.2:c.1807G>T
• NM_002230.4:c.1807G>TMANE SELECT
• NM_021991.2:c.1807G>T
• NM_021991.4:c.1807G>T
• NP_001339702.1:p.Val603Leu
• NP_001339703.1:p.Val603Leu
• NP_001339704.1:p.Val603Leu
• NP_001339705.1:p.Val603Leu
• NP_001339706.1:p.Val603Leu
• NP_002221.1:p.Val603Leu
• NP_068831.1:p.Val603Leu
• LRG_401t1:c.1807G>T
• LRG_401t2:c.1807G>T
• LRG_401:g.33962G>T
• NC_000017.10:g.39914003C>A
• NM_002230.2:c.1807G>T
• NM_002230.3:c.1807G>T

This HGVS expression did not pass validation

Protein change:

V603L

Links:

dbSNP: rs200327969

NCBI 1000 Genomes Browser:

rs200327969

Molecular consequence:

• NM_001352773.2:c.1807G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001352774.2:c.1807G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001352775.2:c.1807G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001352776.2:c.1807G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001352777.2:c.1807G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_002230.4:c.1807G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_021991.4:c.1807G>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1