ClinVar

NM_001713.3(BHMT):c.1200del (p.Lys400fs)

Gene:

BHMT:betaine--homocysteine S-methyltransferase [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

5q14.1

Genomic location:

• Chr5: 79131091 (on Assembly GRCh38)
• Chr5: 78426914 (on Assembly GRCh37)

Preferred name:

NM_001713.3(BHMT):c.1200del (p.Lys400fs)

HGVS:

• NC_000005.10:g.79131095del
• NG_029156.1:g.24315del
• NM_001713.3:c.1200delMANE SELECT
• NP_001704.2:p.Lys400fs
• NC_000005.9:g.78426918del
• NM_001713.2:c.1196delA

This HGVS expression did not pass validation

Protein change:

K400fs

Links:

dbSNP: rs763726268

NCBI 1000 Genomes Browser:

rs763726268

Molecular consequence:

• NM_001713.3:c.1200del - frameshift variant - [Sequence Ontology: SO:0001589]