ClinVar

NM_201384.3(PLEC):c.7425+37C>T

Gene:

PLEC:plectin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q24.3

Genomic location:

• Chr8: 143922467 (on Assembly GRCh38)
• Chr8: 144996635 (on Assembly GRCh37)

Preferred name:

NM_201384.3(PLEC):c.7425+37C>T

HGVS:

• NC_000008.11:g.143922467G>A
• NG_012492.1:g.59279C>T
• NM_000445.5:c.7506+37C>T
• NM_201378.4:c.7383+37C>T
• NM_201379.3:c.7359+37C>T
• NM_201380.4:c.7836+37C>T
• NM_201381.3:c.7329+37C>T
• NM_201382.4:c.7425+37C>T
• NM_201383.3:c.7437+37C>T
• NM_201384.3:c.7425+37C>TMANE SELECT
• NC_000008.10:g.144996635G>A
• NM_000445.3:c.7506+37C>T
• NM_000445.4:c.7506+37C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs11786934

NCBI 1000 Genomes Browser:

rs11786934

Molecular consequence:

• NM_000445.5:c.7506+37C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_201378.4:c.7383+37C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_201379.3:c.7359+37C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_201380.4:c.7836+37C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_201381.3:c.7329+37C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_201382.4:c.7425+37C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_201383.3:c.7437+37C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_201384.3:c.7425+37C>T - intron variant - [Sequence Ontology: SO:0001627]