ClinVar

NM_017539.2(DNAH3):c.56C>G (p.Pro19Arg)

Genes:

DNAH3:dynein axonemal heavy chain 3 [Gene - OMIM - HGNC]
LDAF1:lipid droplet assembly factor 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p12.3

Genomic location:

• Chr16: 21159386 (on Assembly GRCh38)
• Chr16: 21170707 (on Assembly GRCh37)

Preferred name:

NM_017539.2(DNAH3):c.56C>G (p.Pro19Arg)

HGVS:

• NC_000016.10:g.21159386G>C
• NG_052617.1:g.5056C>G
• NG_133352.1:g.316G>C
• NM_001301769.2:c.-130+640G>C
• NM_001301771.2:c.-99+640G>CMANE SELECT
• NM_001301773.2:c.-206+640G>C
• NM_001301774.2:c.-99+640G>C
• NM_001301775.2:c.-99+640G>C
• NM_017539.2:c.56C>G
• NM_020422.6:c.-206+640G>C
• NP_060009.1:p.Pro19Arg
• NC_000016.9:g.21170707G>C
• NM_017539.1:c.56C>G

This HGVS expression did not pass validation

Protein change:

P19R

Molecular consequence:

• NM_001301769.2:c.-130+640G>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001301771.2:c.-99+640G>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001301773.2:c.-206+640G>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001301774.2:c.-99+640G>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001301775.2:c.-99+640G>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_020422.6:c.-206+640G>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_017539.2:c.56C>G - missense variant - [Sequence Ontology: SO:0001583]