ClinVar

NM_001256715.2(DNAAF3):c.1001T>C (p.Leu334Pro)

Genes:

TNNI3:troponin I3, cardiac type [Gene - OMIM - HGNC]
LOC130065090:ATAC-STARR-seq lymphoblastoid silent region 11016 [Gene]
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: 55160687 (on Assembly GRCh38)
• Chr19: 55672055 (on Assembly GRCh37)

Preferred name:

NM_001256715.2(DNAAF3):c.1001T>C (p.Leu334Pro)

HGVS:

• NC_000019.10:g.55160687A>G
• NG_007866.2:g.2046T>C
• NG_032759.1:g.11036T>C
• NM_001256714.1:c.1205T>C
• NM_001256715.2:c.1001T>CMANE SELECT
• NM_001256716.2:c.839T>C
• NM_178837.4:c.1142T>C
• NP_001243643.1:p.Leu402Pro
• NP_001243644.1:p.Leu334Pro
• NP_001243645.1:p.Leu280Pro
• NP_849159.2:p.Leu381Pro
• LRG_432:g.2046T>C
• NC_000019.9:g.55672055A>G

This HGVS expression did not pass validation

Protein change:

L280P

Links:

dbSNP: rs890871

NCBI 1000 Genomes Browser:

rs890871

Molecular consequence:

• NM_001256714.1:c.1205T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001256715.2:c.1001T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001256716.2:c.839T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_178837.4:c.1142T>C - missense variant - [Sequence Ontology: SO:0001583]