ClinVar

NM_000277.3(PAH):c.241_256del (p.Thr81fs)

Gene:

PAH:phenylalanine hydroxylase [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

12q23.2

Genomic location:

• Chr12: 102894831 - 102894846 (on Assembly GRCh38)
• Chr12: 103288609 - 103288624 (on Assembly GRCh37)

Preferred name:

NM_000277.3(PAH):c.241_256del (p.Thr81fs)

HGVS:

• NC_000012.12:g.102894832_102894847del
• NG_008690.2:g.68565_68580del
• NM_000277.3:c.241_256delMANE SELECT
• NM_001354304.2:c.241_256del
• NP_000268.1:p.Thr81fs
• NP_001341233.1:p.Thr81fs
• NC_000012.11:g.103288610_103288625del
• NM_000277.1:c.241_256del16

This HGVS expression did not pass validation

Protein change:

T81fs

Links:

dbSNP: rs63749677

NCBI 1000 Genomes Browser:

rs63749677

Molecular consequence:

• NM_000277.3:c.241_256del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001354304.2:c.241_256del - frameshift variant - [Sequence Ontology: SO:0001589]