ClinVar

NM_201384.3(PLEC):c.5712C>T (p.Ser1904=)

Gene:

PLEC:plectin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q24.3

Genomic location:

• Chr8: 143924217 (on Assembly GRCh38)
• Chr8: 144998385 (on Assembly GRCh37)

Preferred name:

NM_201384.3(PLEC):c.5712C>T (p.Ser1904=)

HGVS:

• NC_000008.11:g.143924217G>A
• NG_012492.1:g.57529C>T
• NM_000445.5:c.5793C>T
• NM_201378.4:c.5670C>T
• NM_201379.3:c.5646C>T
• NM_201380.4:c.6123C>T
• NM_201381.3:c.5616C>T
• NM_201382.4:c.5712C>T
• NM_201383.3:c.5724C>T
• NM_201384.3:c.5712C>TMANE SELECT
• NP_000436.2:p.Ser1931=
• NP_958780.1:p.Ser1890=
• NP_958781.1:p.Ser1882=
• NP_958782.1:p.Ser2041=
• NP_958783.1:p.Ser1872=
• NP_958784.1:p.Ser1904=
• NP_958785.1:p.Ser1908=
• NP_958786.1:p.Ser1904=
• NC_000008.10:g.144998385G>A
• NM_000445.3:c.5793C>T
• NM_000445.4:c.5793C>T
• p.Ser1931Ser

This HGVS expression did not pass validation

Links:

dbSNP: rs115735672

NCBI 1000 Genomes Browser:

rs115735672

Molecular consequence:

• NM_000445.5:c.5793C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_201378.4:c.5670C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_201379.3:c.5646C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_201380.4:c.6123C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_201381.3:c.5616C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_201382.4:c.5712C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_201383.3:c.5724C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_201384.3:c.5712C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1