ClinVar

NM_031427.4(DNAL1):c.*6138TG[10]

Gene:

DNAL1:dynein axonemal light chain 1 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

14q24.3

Genomic location:

• Chr14: 73702079 - 73702084 (on Assembly GRCh38)
• Chr14: 74168782 - 74168787 (on Assembly GRCh37)

Preferred name:

NM_031427.4(DNAL1):c.*6138TG[10]

HGVS:

• NC_000014.9:g.73702080TG[10]
• NG_028083.2:g.62206TG[10]
• NM_001201366.2:c.*6138TG[10]
• NM_031427.4:c.*6138TG[10]MANE SELECT
• NC_000014.8:g.74168783TG[10]
• NM_031427.3:c.*6158_*6163delTGTGTG

This HGVS expression did not pass validation

Links:

dbSNP: rs10679978

NCBI 1000 Genomes Browser:

rs10679978

Molecular consequence:

• NM_001201366.2:c.*6138TG[10] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_031427.4:c.*6138TG[10] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]