ClinVar

NM_182765.6(HECTD2):c.1267C>T (p.Arg423Trp)

Genes:

HECTD2:HECT domain E3 ubiquitin protein ligase 2 [Gene - HGNC]
HECTD2-AS1:HECTD2 antisense RNA 1 [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q23.32

Genomic location:

• Chr10: 91491275 (on Assembly GRCh38)
• Chr10: 93251032 (on Assembly GRCh37)

Preferred name:

NM_182765.6(HECTD2):c.1267C>T (p.Arg423Trp)

HGVS:

• NC_000010.11:g.91491275C>T
• NM_001284274.3:c.1279C>T
• NM_001348365.2:c.946C>T
• NM_182765.6:c.1267C>TMANE SELECT
• NP_001271203.2:p.Arg427Trp
• NP_001335294.1:p.Arg316Trp
• NP_877497.4:p.Arg423Trp
• NC_000010.10:g.93251032C>T
• NM_182765.3:c.1267C>T
• NR_104291.3:n.1324C>T
• NR_145526.2:n.1362C>T

This HGVS expression did not pass validation

Protein change:

R316W

Molecular consequence:

• NM_001284274.3:c.1279C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001348365.2:c.946C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_182765.6:c.1267C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_104291.3:n.1324C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_145526.2:n.1362C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]