ClinVar

NM_201384.3(PLEC):c.9333G>A (p.Gly3111=)

Gene:

PLEC:plectin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q24.3

Genomic location:

• Chr8: 143920488 (on Assembly GRCh38)
• Chr8: 144994656 (on Assembly GRCh37)

Preferred name:

NM_201384.3(PLEC):c.9333G>A (p.Gly3111=)

HGVS:

• NC_000008.11:g.143920488C>T
• NG_012492.1:g.61258G>A
• NM_000445.5:c.9414G>A
• NM_201378.4:c.9291G>A
• NM_201379.3:c.9267G>A
• NM_201380.4:c.9744G>A
• NM_201381.3:c.9237G>A
• NM_201382.4:c.9333G>A
• NM_201383.3:c.9345G>A
• NM_201384.3:c.9333G>AMANE SELECT
• NP_000436.2:p.Gly3138=
• NP_958780.1:p.Gly3097=
• NP_958781.1:p.Gly3089=
• NP_958782.1:p.Gly3248=
• NP_958783.1:p.Gly3079=
• NP_958784.1:p.Gly3111=
• NP_958785.1:p.Gly3115=
• NP_958786.1:p.Gly3111=
• NC_000008.10:g.144994656C>T
• NM_000445.3:c.9414G>A
• NM_000445.4:c.9414G>A
• p.Gly3138Gly

This HGVS expression did not pass validation

Links:

dbSNP: rs188739870

NCBI 1000 Genomes Browser:

rs188739870

Molecular consequence:

• NM_000445.5:c.9414G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_201378.4:c.9291G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_201379.3:c.9267G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_201380.4:c.9744G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_201381.3:c.9237G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_201382.4:c.9333G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_201383.3:c.9345G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_201384.3:c.9333G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

6