ClinVar

NM_002230.4(JUP):c.1924+8G>C

Gene:

JUP:junction plakoglobin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.2

Genomic location:

• Chr17: 41757626 (on Assembly GRCh38)
• Chr17: 39913878 (on Assembly GRCh37)

Preferred name:

NM_002230.4(JUP):c.1924+8G>C

HGVS:

• NC_000017.11:g.41757626C>G
• NG_009090.2:g.34087G>C
• NM_001352773.2:c.1924+8G>C
• NM_001352774.2:c.1924+8G>C
• NM_001352775.2:c.1924+8G>C
• NM_001352776.2:c.1924+8G>C
• NM_001352777.2:c.1924+8G>C
• NM_002230.4:c.1924+8G>CMANE SELECT
• NM_021991.4:c.1924+8G>C
• LRG_401t2:c.1924+8G>C
• LRG_401:g.34087G>C
• NC_000017.10:g.39913878C>G
• NM_002230.2:c.1924+8G>C

This HGVS expression did not pass validation

Links:

dbSNP: rs730880115

NCBI 1000 Genomes Browser:

rs730880115

Molecular consequence:

• NM_001352773.2:c.1924+8G>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001352774.2:c.1924+8G>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001352775.2:c.1924+8G>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001352776.2:c.1924+8G>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001352777.2:c.1924+8G>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_002230.4:c.1924+8G>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_021991.4:c.1924+8G>C - intron variant - [Sequence Ontology: SO:0001627]

Observations:

1