ClinVar

NM_201384.3(PLEC):c.11611G>A (p.Gly3871Ser)

Gene:

PLEC:plectin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q24.3

Genomic location:

• Chr8: 143918210 (on Assembly GRCh38)
• Chr8: 144992378 (on Assembly GRCh37)

Preferred name:

NM_201384.3(PLEC):c.11611G>A (p.Gly3871Ser)

HGVS:

• NC_000008.11:g.143918210C>T
• NG_012492.1:g.63536G>A
• NM_000445.5:c.11692G>A
• NM_201378.4:c.11569G>A
• NM_201379.3:c.11545G>A
• NM_201380.4:c.12022G>A
• NM_201381.3:c.11515G>A
• NM_201382.4:c.11611G>A
• NM_201383.3:c.11623G>A
• NM_201384.3:c.11611G>AMANE SELECT
• NP_000436.2:p.Gly3898Ser
• NP_958780.1:p.Gly3857Ser
• NP_958781.1:p.Gly3849Ser
• NP_958782.1:p.Gly4008Ser
• NP_958783.1:p.Gly3839Ser
• NP_958784.1:p.Gly3871Ser
• NP_958785.1:p.Gly3875Ser
• NP_958786.1:p.Gly3871Ser
• NC_000008.10:g.144992378C>T
• NM_000445.3:c.11692G>A
• NM_000445.4:c.11692G>A

This HGVS expression did not pass validation

Protein change:

G3839S

Links:

dbSNP: rs201419047

NCBI 1000 Genomes Browser:

rs201419047

Molecular consequence:

• NM_000445.5:c.11692G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_201378.4:c.11569G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_201379.3:c.11545G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_201380.4:c.12022G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_201381.3:c.11515G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_201382.4:c.11611G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_201383.3:c.11623G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_201384.3:c.11611G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

2