ClinVar

NM_000709.4(BCKDHA):c.663C>T (p.Tyr221=)

Gene:

BCKDHA:branched chain keto acid dehydrogenase E1 subunit alpha [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.2

Genomic location:

• Chr19: 41422180 (on Assembly GRCh38)
• Chr19: 41928085 (on Assembly GRCh37)

Preferred name:

NM_000709.4(BCKDHA):c.663C>T (p.Tyr221=)

HGVS:

• NC_000019.10:g.41422180C>T
• NG_013004.1:g.29392C>T
• NM_000709.4:c.663C>TMANE SELECT
• NM_001164783.2:c.663C>T
• NP_000700.1:p.Tyr221=
• NP_001158255.1:p.Tyr221=
• NC_000019.9:g.41928085C>T
• NM_000709.3:c.663C>T
• NP_000700.1:p.(=)
• NP_000700.1:p.(=)

This HGVS expression did not pass validation

Links:

dbSNP: rs151227241

NCBI 1000 Genomes Browser:

rs151227241

Molecular consequence:

• NM_000709.4:c.663C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001164783.2:c.663C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1