ClinVar

NM_012472.6(DNAAF11):c.1141-173G>A

Gene:

DNAAF11:dynein axonemal assembly factor 11 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q24.22

Genomic location:

• Chr8: 132583952 (on Assembly GRCh38)
• Chr8: 133596199 (on Assembly GRCh37)

Preferred name:

NM_012472.6(DNAAF11):c.1141-173G>A

HGVS:

• NC_000008.11:g.132583952C>T
• NG_033068.1:g.96665G>A
• NM_001321961.2:c.1081-173G>A
• NM_001321962.2:c.895-173G>A
• NM_001321963.2:c.781-173G>A
• NM_001321964.2:c.781-173G>A
• NM_001321965.2:c.781-173G>A
• NM_001321966.2:c.721-173G>A
• NM_012472.6:c.1141-173G>AMANE SELECT
• NC_000008.10:g.133596199C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs143424044

NCBI 1000 Genomes Browser:

rs143424044

Molecular consequence:

• NM_001321961.2:c.1081-173G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001321962.2:c.895-173G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001321963.2:c.781-173G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001321964.2:c.781-173G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001321965.2:c.781-173G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001321966.2:c.721-173G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_012472.6:c.1141-173G>A - intron variant - [Sequence Ontology: SO:0001627]