ClinVar

NM_006141.3(DYNC1LI2):c.1133C>T (p.Thr378Met)

Gene:

DYNC1LI2:dynein cytoplasmic 1 light intermediate chain 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q22.1

Genomic location:

• Chr16: 66728211 (on Assembly GRCh38)
• Chr16: 66762114 (on Assembly GRCh37)

Preferred name:

NM_006141.3(DYNC1LI2):c.1133C>T (p.Thr378Met)

HGVS:

• NC_000016.10:g.66728211G>A
• NM_001286157.2:c.902C>T
• NM_001323955.2:c.1016C>T
• NM_006141.3:c.1133C>TMANE SELECT
• NP_001273086.1:p.Thr301Met
• NP_001310884.1:p.Thr339Met
• NP_006132.1:p.Thr378Met
• NC_000016.9:g.66762114G>A
• NM_006141.2:c.1133C>T
• NR_136658.2:n.1151C>T

This HGVS expression did not pass validation

Protein change:

T301M

Molecular consequence:

• NM_001286157.2:c.902C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323955.2:c.1016C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_006141.3:c.1133C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_136658.2:n.1151C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]