ClinVar

NM_201384.3(PLEC):c.1824C>T (p.Ser608=)

Gene:

PLEC:plectin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q24.3

Genomic location:

• Chr8: 143932553 (on Assembly GRCh38)
• Chr8: 145006721 (on Assembly GRCh37)

Preferred name:

NM_201384.3(PLEC):c.1824C>T (p.Ser608=)

HGVS:

• NC_000008.11:g.143932553G>A
• NG_012492.1:g.49193C>T
• NM_000445.5:c.1905C>T
• NM_201378.4:c.1782C>T
• NM_201379.3:c.1758C>T
• NM_201380.4:c.2235C>T
• NM_201381.3:c.1728C>T
• NM_201382.4:c.1824C>T
• NM_201383.3:c.1836C>T
• NM_201384.3:c.1824C>TMANE SELECT
• NP_000436.2:p.Ser635=
• NP_958780.1:p.Ser594=
• NP_958781.1:p.Ser586=
• NP_958782.1:p.Ser745=
• NP_958783.1:p.Ser576=
• NP_958784.1:p.Ser608=
• NP_958785.1:p.Ser612=
• NP_958786.1:p.Ser608=
• NC_000008.10:g.145006721G>A
• NM_000445.3:c.1905C>T
• NM_000445.4:c.1905C>T
• p.Ser635Ser

This HGVS expression did not pass validation

Links:

dbSNP: rs201927593

NCBI 1000 Genomes Browser:

rs201927593

Molecular consequence:

• NM_000445.5:c.1905C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_201378.4:c.1782C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_201379.3:c.1758C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_201380.4:c.2235C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_201381.3:c.1728C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_201382.4:c.1824C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_201383.3:c.1836C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_201384.3:c.1824C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1