ClinVar

NM_005881.4(BCKDK):c.1104C>T (p.Phe368=)

Gene:

BCKDK:branched chain keto acid dehydrogenase kinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p11.2

Genomic location:

• Chr16: 31112130 (on Assembly GRCh38)
• Chr16: 31123451 (on Assembly GRCh37)

Preferred name:

NM_005881.4(BCKDK):c.1104C>T (p.Phe368=)

HGVS:

• NC_000016.10:g.31112130C>T
• NG_033011.1:g.8837C>T
• NM_001122957.4:c.*99C>T
• NM_001271926.3:c.*99C>T
• NM_005881.4:c.1104C>TMANE SELECT
• NP_005872.2:p.Phe368=
• NC_000016.9:g.31123451C>T
• NM_005881.3:c.1104C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs201614853

NCBI 1000 Genomes Browser:

rs201614853

Molecular consequence:

• NM_001122957.4:c.*99C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001271926.3:c.*99C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_005881.4:c.1104C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

2