ClinVar

NM_002230.4(JUP):c.312C>G (p.Thr104=)

Gene:

JUP:junction plakoglobin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.2

Genomic location:

• Chr17: 41769574 (on Assembly GRCh38)
• Chr17: 39925826 (on Assembly GRCh37)

Preferred name:

NM_002230.4(JUP):c.312C>G (p.Thr104=)

HGVS:

• NC_000017.11:g.41769574G>C
• NG_009090.2:g.22139C>G
• NM_001352773.2:c.312C>G
• NM_001352774.2:c.312C>G
• NM_001352775.2:c.312C>G
• NM_001352776.2:c.312C>G
• NM_001352777.2:c.312C>G
• NM_002230.4:c.312C>GMANE SELECT
• NM_021991.4:c.312C>G
• NP_001339702.1:p.Thr104=
• NP_001339703.1:p.Thr104=
• NP_001339704.1:p.Thr104=
• NP_001339705.1:p.Thr104=
• NP_001339706.1:p.Thr104=
• NP_002221.1:p.Thr104=
• NP_068831.1:p.Thr104=
• LRG_401:g.22139C>G
• NC_000017.10:g.39925826G>C

This HGVS expression did not pass validation

Links:

dbSNP: rs2143695686

NCBI 1000 Genomes Browser:

rs2143695686

Molecular consequence:

• NM_001352773.2:c.312C>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001352774.2:c.312C>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001352775.2:c.312C>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001352776.2:c.312C>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001352777.2:c.312C>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_002230.4:c.312C>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_021991.4:c.312C>G - synonymous variant - [Sequence Ontology: SO:0001819]