ClinVar

NM_001256715.2(DNAAF3):c.1093= (p.Asn365=)

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: 55159969 (on Assembly GRCh38)
• Chr19: 55671337 (on Assembly GRCh37)

Preferred name:

NM_001256715.2(DNAAF3):c.1093= (p.Asn365=)

HGVS:

• NC_000019.10:g.55159969=
• NG_007866.2:g.2764G>A
• NG_032759.1:g.11754=
• NM_001256714.1:c.1294=
• NM_001256715.2:c.1093=MANE SELECT
• NM_001256716.2:c.931=
• NM_178837.4:c.1234=
• NP_001243643.1:p.Asn432=
• NP_001243644.1:p.Asn365=
• NP_001243645.1:p.Asn311=
• NP_849159.2:p.Asn412=
• LRG_432:g.2764G>A
• NC_000019.9:g.55671337C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs890872

NCBI 1000 Genomes Browser:

rs890872

Molecular consequence:

• NM_001256714.1:c.1294= - no sequence alteration - [Sequence Ontology: SO:0002073]
• NM_001256715.2:c.1093= - no sequence alteration - [Sequence Ontology: SO:0002073]
• NM_001256716.2:c.931= - no sequence alteration - [Sequence Ontology: SO:0002073]
• NM_178837.4:c.1234= - no sequence alteration - [Sequence Ontology: SO:0002073]