ClinVar

NM_201384.3(PLEC):c.6162C>T (p.His2054=)

Gene:

PLEC:plectin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q24.3

Genomic location:

• Chr8: 143923767 (on Assembly GRCh38)
• Chr8: 144997935 (on Assembly GRCh37)

Preferred name:

NM_201384.3(PLEC):c.6162C>T (p.His2054=)

HGVS:

• NC_000008.11:g.143923767G>A
• NG_012492.1:g.57979C>T
• NM_000445.5:c.6243C>T
• NM_201378.4:c.6120C>T
• NM_201379.3:c.6096C>T
• NM_201380.4:c.6573C>T
• NM_201381.3:c.6066C>T
• NM_201382.4:c.6162C>T
• NM_201383.3:c.6174C>T
• NM_201384.3:c.6162C>TMANE SELECT
• NP_000436.2:p.His2081=
• NP_958780.1:p.His2040=
• NP_958781.1:p.His2032=
• NP_958782.1:p.His2191=
• NP_958783.1:p.His2022=
• NP_958784.1:p.His2054=
• NP_958785.1:p.His2058=
• NP_958786.1:p.His2054=
• NC_000008.10:g.144997935G>A
• NM_000445.3:c.6243C>T
• NM_000445.4:c.6243C>T
• p.His2081His

This HGVS expression did not pass validation

Links:

dbSNP: rs563719398

NCBI 1000 Genomes Browser:

rs563719398

Molecular consequence:

• NM_000445.5:c.6243C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_201378.4:c.6120C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_201379.3:c.6096C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_201380.4:c.6573C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_201381.3:c.6066C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_201382.4:c.6162C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_201383.3:c.6174C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_201384.3:c.6162C>T - synonymous variant - [Sequence Ontology: SO:0001819]