ClinVar

NM_006009.4(TUBA1A):c.848A>G (p.His283Arg)

Gene:

TUBA1A:tubulin alpha 1a [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q13.12

Genomic location:

• Chr12: 49185518 (on Assembly GRCh38)
• Chr12: 49579301 (on Assembly GRCh37)

Preferred name:

NM_006009.4(TUBA1A):c.848A>G (p.His283Arg)

HGVS:

• NC_000012.12:g.49185518T>C
• NG_008966.1:g.8561A>G
• NM_001270399.2:c.848A>G
• NM_001270400.2:c.743A>G
• NM_006009.4:c.848A>GMANE SELECT
• NP_001257328.1:p.His283Arg
• NP_001257329.1:p.His248Arg
• NP_006000.2:p.His283Arg
• NC_000012.11:g.49579301T>C
• NM_001270399.1:c.848A>G

This HGVS expression did not pass validation

Protein change:

H248R

Links:

dbSNP: rs2121243281

NCBI 1000 Genomes Browser:

rs2121243281

Molecular consequence:

• NM_001270399.2:c.848A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001270400.2:c.743A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_006009.4:c.848A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1