ClinVar

NM_201384.3(PLEC):c.11720C>T (p.Thr3907Met)

Gene:

PLEC:plectin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q24.3

Genomic location:

• Chr8: 143918101 (on Assembly GRCh38)
• Chr8: 144992269 (on Assembly GRCh37)

Preferred name:

NM_201384.3(PLEC):c.11720C>T (p.Thr3907Met)

HGVS:

• NC_000008.11:g.143918101G>A
• NG_012492.1:g.63645C>T
• NM_000445.5:c.11801C>T
• NM_201378.4:c.11678C>T
• NM_201379.3:c.11654C>T
• NM_201380.4:c.12131C>T
• NM_201381.3:c.11624C>T
• NM_201382.4:c.11720C>T
• NM_201383.3:c.11732C>T
• NM_201384.3:c.11720C>TMANE SELECT
• NP_000436.2:p.Thr3934Met
• NP_958780.1:p.Thr3893Met
• NP_958781.1:p.Thr3885Met
• NP_958782.1:p.Thr4044Met
• NP_958783.1:p.Thr3875Met
• NP_958784.1:p.Thr3907Met
• NP_958785.1:p.Thr3911Met
• NP_958786.1:p.Thr3907Met
• NC_000008.10:g.144992269G>A
• NM_000445.3:c.11801C>T
• NM_000445.4:c.11801C>T

This HGVS expression did not pass validation

Protein change:

T3875M

Links:

dbSNP: rs78461695

NCBI 1000 Genomes Browser:

rs78461695

Molecular consequence:

• NM_000445.5:c.11801C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_201378.4:c.11678C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_201379.3:c.11654C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_201380.4:c.12131C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_201381.3:c.11624C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_201382.4:c.11720C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_201383.3:c.11732C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_201384.3:c.11720C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

17