ClinVar

NM_201384.3(PLEC):c.13479G>A (p.Ser4493=)

Gene:

PLEC:plectin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q24.3

Genomic location:

• Chr8: 143916342 (on Assembly GRCh38)
• Chr8: 144990510 (on Assembly GRCh37)

Preferred name:

NM_201384.3(PLEC):c.13479G>A (p.Ser4493=)

HGVS:

• NC_000008.11:g.143916342C>T
• NG_012492.1:g.65404G>A
• NM_000445.5:c.13560G>A
• NM_201378.4:c.13437G>A
• NM_201379.3:c.13413G>A
• NM_201380.4:c.13890G>A
• NM_201381.3:c.13383G>A
• NM_201382.4:c.13479G>A
• NM_201383.3:c.13491G>A
• NM_201384.3:c.13479G>AMANE SELECT
• NP_000436.2:p.Ser4520=
• NP_958780.1:p.Ser4479=
• NP_958781.1:p.Ser4471=
• NP_958782.1:p.Ser4630=
• NP_958783.1:p.Ser4461=
• NP_958784.1:p.Ser4493=
• NP_958785.1:p.Ser4497=
• NP_958786.1:p.Ser4493=
• NC_000008.10:g.144990510C>T
• NM_000445.3:c.13560G>A
• NM_000445.4:c.13560G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs781929758

NCBI 1000 Genomes Browser:

rs781929758

Molecular consequence:

• NM_000445.5:c.13560G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_201378.4:c.13437G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_201379.3:c.13413G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_201380.4:c.13890G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_201381.3:c.13383G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_201382.4:c.13479G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_201383.3:c.13491G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_201384.3:c.13479G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

21