ClinVar

NM_201384.3(PLEC):c.13282G>A (p.Val4428Met)

Gene:

PLEC:plectin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q24.3

Genomic location:

• Chr8: 143916539 (on Assembly GRCh38)
• Chr8: 144990707 (on Assembly GRCh37)

Preferred name:

NM_201384.3(PLEC):c.13282G>A (p.Val4428Met)

HGVS:

• NC_000008.11:g.143916539C>T
• NG_012492.1:g.65207G>A
• NM_000445.3:c.13363G>A
• NM_000445.5:c.13363G>A
• NM_201378.4:c.13240G>A
• NM_201379.3:c.13216G>A
• NM_201380.4:c.13693G>A
• NM_201381.3:c.13186G>A
• NM_201382.4:c.13282G>A
• NM_201383.3:c.13294G>A
• NM_201384.3:c.13282G>AMANE SELECT
• NP_000436.2:p.Val4455Met
• NP_958780.1:p.Val4414Met
• NP_958781.1:p.Val4406Met
• NP_958782.1:p.Val4565Met
• NP_958783.1:p.Val4396Met
• NP_958784.1:p.Val4428Met
• NP_958785.1:p.Val4432Met
• NP_958786.1:p.Val4428Met
• NC_000008.10:g.144990707C>T
• NM_000445.4:c.13363G>A

This HGVS expression did not pass validation

Protein change:

V4396M

Links:

dbSNP: rs781960986

NCBI 1000 Genomes Browser:

rs781960986

Molecular consequence:

• NM_000445.5:c.13363G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_201378.4:c.13240G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_201379.3:c.13216G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_201380.4:c.13693G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_201381.3:c.13186G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_201382.4:c.13282G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_201383.3:c.13294G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_201384.3:c.13282G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1