ClinVar

NM_000255.4(MMUT):c.385+9T>C

Gene:

MMUT:methylmalonyl-CoA mutase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p12.3

Genomic location:

• Chr6: 49459073 (on Assembly GRCh38)
• Chr6: 49426786 (on Assembly GRCh37)

Preferred name:

NM_000255.4(MMUT):c.385+9T>C

Other names:

KC594080.1; KC594095.1

HGVS:

• NC_000006.12:g.49459073A>G
• NG_007100.1:g.9067T>C
• NM_000255.4:c.385+9T>CMANE SELECT
• NC_000006.11:g.49426786A>G

This HGVS expression did not pass validation

Links:

dbSNP: rs483352783

NCBI 1000 Genomes Browser:

rs483352783

Molecular consequence:

• NM_000255.4:c.385+9T>C - intron variant - [Sequence Ontology: SO:0001627]