ClinVar

NM_001256715.2(DNAAF3):c.1062G>C (p.Pro354=)

Genes:

DNAAF3-AS1:DNAAF3 antisense RNA 1 [Gene - HGNC]
DNAAF3:dynein axonemal assembly factor 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.42

Genomic location:

• Chr19: 55160000 (on Assembly GRCh38)
• Chr19: 55671368 (on Assembly GRCh37)

Preferred name:

NM_001256715.2(DNAAF3):c.1062G>C (p.Pro354=)

HGVS:

• NC_000019.10:g.55160000C>G
• NG_007866.2:g.2733G>C
• NG_032759.1:g.11723G>C
• NM_001256714.1:c.1263G>C
• NM_001256715.2:c.1062G>CMANE SELECT
• NM_001256716.2:c.900G>C
• NM_178837.4:c.1203G>C
• NP_001243643.1:p.Pro421=
• NP_001243644.1:p.Pro354=
• NP_001243645.1:p.Pro300=
• NP_849159.2:p.Pro401=
• LRG_432:g.2733G>C
• NC_000019.9:g.55671368C>G

This HGVS expression did not pass validation

Molecular consequence:

• NM_001256714.1:c.1263G>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001256715.2:c.1062G>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001256716.2:c.900G>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_178837.4:c.1203G>C - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1