ClinVar

NM_201384.3(PLEC):c.13469G>A (p.Arg4490His)

Gene:

PLEC:plectin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q24.3

Genomic location:

• Chr8: 143916352 (on Assembly GRCh38)
• Chr8: 144990520 (on Assembly GRCh37)

Preferred name:

NM_201384.3(PLEC):c.13469G>A (p.Arg4490His)

HGVS:

• NC_000008.11:g.143916352C>T
• NG_012492.1:g.65394G>A
• NM_000445.5:c.13550G>A
• NM_201378.4:c.13427G>A
• NM_201379.3:c.13403G>A
• NM_201380.4:c.13880G>A
• NM_201381.3:c.13373G>A
• NM_201382.4:c.13469G>A
• NM_201383.3:c.13481G>A
• NM_201384.3:c.13469G>AMANE SELECT
• NP_000436.2:p.Arg4517His
• NP_958780.1:p.Arg4476His
• NP_958781.1:p.Arg4468His
• NP_958782.1:p.Arg4627His
• NP_958783.1:p.Arg4458His
• NP_958784.1:p.Arg4490His
• NP_958785.1:p.Arg4494His
• NP_958786.1:p.Arg4490His
• NC_000008.10:g.144990520C>T
• NM_000445.3:c.13550G>A
• NM_000445.4:c.13550G>A

This HGVS expression did not pass validation

Protein change:

R4458H

Links:

dbSNP: rs782151802

NCBI 1000 Genomes Browser:

rs782151802

Molecular consequence:

• NM_000445.5:c.13550G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_201378.4:c.13427G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_201379.3:c.13403G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_201380.4:c.13880G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_201381.3:c.13373G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_201382.4:c.13469G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_201383.3:c.13481G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_201384.3:c.13469G>A - missense variant - [Sequence Ontology: SO:0001583]