ClinVar

NM_201384.3(PLEC):c.12027C>T (p.Arg4009=)

Gene:

PLEC:plectin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q24.3

Genomic location:

• Chr8: 143917794 (on Assembly GRCh38)
• Chr8: 144991962 (on Assembly GRCh37)

Preferred name:

NM_201384.3(PLEC):c.12027C>T (p.Arg4009=)

HGVS:

• NC_000008.11:g.143917794G>A
• NG_012492.1:g.63952C>T
• NM_000445.5:c.12108C>T
• NM_201378.4:c.11985C>T
• NM_201379.3:c.11961C>T
• NM_201380.4:c.12438C>T
• NM_201381.3:c.11931C>T
• NM_201382.4:c.12027C>T
• NM_201383.3:c.12039C>T
• NM_201384.3:c.12027C>TMANE SELECT
• NP_000436.2:p.Arg4036=
• NP_958780.1:p.Arg3995=
• NP_958781.1:p.Arg3987=
• NP_958782.1:p.Arg4146=
• NP_958783.1:p.Arg3977=
• NP_958784.1:p.Arg4009=
• NP_958785.1:p.Arg4013=
• NP_958786.1:p.Arg4009=
• NC_000008.10:g.144991962G>A
• NM_000445.3:c.12108C>T
• NM_000445.4:c.12108C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs762178584

NCBI 1000 Genomes Browser:

rs762178584

Molecular consequence:

• NM_000445.5:c.12108C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_201378.4:c.11985C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_201379.3:c.11961C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_201380.4:c.12438C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_201381.3:c.11931C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_201382.4:c.12027C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_201383.3:c.12039C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_201384.3:c.12027C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

2