ClinVar

NM_201384.3(PLEC):c.13449C>T (p.Ser4483=)

Gene:

PLEC:plectin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q24.3

Genomic location:

• Chr8: 143916372 (on Assembly GRCh38)
• Chr8: 144990540 (on Assembly GRCh37)

Preferred name:

NM_201384.3(PLEC):c.13449C>T (p.Ser4483=)

HGVS:

• NC_000008.11:g.143916372G>A
• NG_012492.1:g.65374C>T
• NM_000445.5:c.13530C>T
• NM_201378.4:c.13407C>T
• NM_201379.3:c.13383C>T
• NM_201380.4:c.13860C>T
• NM_201381.3:c.13353C>T
• NM_201382.4:c.13449C>T
• NM_201383.3:c.13461C>T
• NM_201384.3:c.13449C>TMANE SELECT
• NP_000436.2:p.Ser4510=
• NP_958780.1:p.Ser4469=
• NP_958781.1:p.Ser4461=
• NP_958782.1:p.Ser4620=
• NP_958783.1:p.Ser4451=
• NP_958784.1:p.Ser4483=
• NP_958785.1:p.Ser4487=
• NP_958786.1:p.Ser4483=
• NC_000008.10:g.144990540G>A
• NM_000445.4:c.13530C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs782187551

NCBI 1000 Genomes Browser:

rs782187551

Molecular consequence:

• NM_000445.5:c.13530C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_201378.4:c.13407C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_201379.3:c.13383C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_201380.4:c.13860C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_201381.3:c.13353C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_201382.4:c.13449C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_201383.3:c.13461C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_201384.3:c.13449C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

2