ClinVar

NM_178014.4(TUBB):c.58-145G>A

Gene:

TUBB:tubulin beta class I [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p21.33

Genomic location:

• Chr6: 30722392 (on Assembly GRCh38)
• Chr6: 30690169 (on Assembly GRCh37)

Preferred name:

NM_178014.4(TUBB):c.58-145G>A

HGVS:

• NC_000006.12:g.30722392G>A
• NG_034142.1:g.7192G>A
• NM_001293212.2:c.118-145G>A
• NM_001293213.2:c.58-145G>A
• NM_001293214.2:c.35-526G>A
• NM_001293215.2:c.-159-145G>A
• NM_001293216.2:c.-159-145G>A
• NM_178014.4:c.58-145G>AMANE SELECT
• NC_000006.11:g.30690169G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs148198842

NCBI 1000 Genomes Browser:

rs148198842

Molecular consequence:

• NM_001293212.2:c.118-145G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001293213.2:c.58-145G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001293214.2:c.35-526G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001293215.2:c.-159-145G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001293216.2:c.-159-145G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_178014.4:c.58-145G>A - intron variant - [Sequence Ontology: SO:0001627]