ClinVar

NM_001256715.2(DNAAF3):c.529G>A (p.Gly177Ser)

Genes:

TNNI3:troponin I3, cardiac type [Gene - OMIM - HGNC]
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: 55161777 (on Assembly GRCh38)
• Chr19: 55673145 (on Assembly GRCh37)

Preferred name:

NM_001256715.2(DNAAF3):c.529G>A (p.Gly177Ser)

HGVS:

• NC_000019.10:g.55161777C>T
• NG_007866.2:g.956G>A
• NG_032759.1:g.9946G>A
• NM_001256714.1:c.733G>A
• NM_001256715.2:c.529G>AMANE SELECT
• NM_001256716.2:c.367G>A
• NM_178837.4:c.670G>A
• NP_001243643.1:p.Gly245Ser
• NP_001243644.1:p.Gly177Ser
• NP_001243645.1:p.Gly123Ser
• NP_849159.2:p.Gly224Ser
• LRG_432:g.956G>A
• NC_000019.9:g.55673145C>T

This HGVS expression did not pass validation

Protein change:

G123S

Links:

dbSNP: rs58824375

NCBI 1000 Genomes Browser:

rs58824375

Molecular consequence:

• NM_001256714.1:c.733G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001256715.2:c.529G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001256716.2:c.367G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_178837.4:c.670G>A - missense variant - [Sequence Ontology: SO:0001583]