ClinVar

NM_001286451.2(HDDC3):c.394C>A (p.Arg132Ser)

Genes:

LOC130057951:ATAC-STARR-seq lymphoblastoid active region 10103 [Gene]
HDDC3:HD domain containing 3 [Gene - HGNC]
UNC45A:unc-45 myosin chaperone A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q26.1

Genomic location:

• Chr15: 90931719 (on Assembly GRCh38)
• Chr15: 91474949 (on Assembly GRCh37)

Preferred name:

NM_001286451.2(HDDC3):c.394C>A (p.Arg132Ser)

HGVS:

• NC_000015.10:g.90931719G>T
• NG_061633.1:g.6540G>T
• NG_192372.1:g.103G>T
• NM_001039675.2:c.-760+1464G>T
• NM_001286451.2:c.394C>AMANE SELECT
• NM_198527.4:c.394C>A
• NP_001273380.1:p.Arg132Ser
• NP_940929.1:p.Arg132Ser
• NC_000015.9:g.91474949G>T
• NM_198527.2:c.394C>A
• NR_104447.2:n.446C>A

This HGVS expression did not pass validation

Protein change:

R132S

Molecular consequence:

• NM_001039675.2:c.-760+1464G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001286451.2:c.394C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_198527.4:c.394C>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_104447.2:n.446C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]