ClinVar

NM_201384.3(PLEC):c.8019G>A (p.Ala2673=)

Gene:

PLEC:plectin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q24.3

Genomic location:

• Chr8: 143921802 (on Assembly GRCh38)
• Chr8: 144995970 (on Assembly GRCh37)

Preferred name:

NM_201384.3(PLEC):c.8019G>A (p.Ala2673=)

HGVS:

• NC_000008.11:g.143921802C>T
• NG_012492.1:g.59944G>A
• NM_000445.5:c.8100G>A
• NM_201378.4:c.7977G>A
• NM_201379.3:c.7953G>A
• NM_201380.4:c.8430G>A
• NM_201381.3:c.7923G>A
• NM_201382.4:c.8019G>A
• NM_201383.3:c.8031G>A
• NM_201384.3:c.8019G>AMANE SELECT
• NP_000436.2:p.Ala2700=
• NP_958780.1:p.Ala2659=
• NP_958781.1:p.Ala2651=
• NP_958782.1:p.Ala2810=
• NP_958783.1:p.Ala2641=
• NP_958784.1:p.Ala2673=
• NP_958785.1:p.Ala2677=
• NP_958786.1:p.Ala2673=
• NC_000008.10:g.144995970C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs374178650

NCBI 1000 Genomes Browser:

rs374178650

Molecular consequence:

• NM_000445.5:c.8100G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_201378.4:c.7977G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_201379.3:c.7953G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_201380.4:c.8430G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_201381.3:c.7923G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_201382.4:c.8019G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_201383.3:c.8031G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_201384.3:c.8019G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1