ClinVar

NM_000277.3(PAH):c.169-4949_352+1467delinsGGCACCTG

Gene:

PAH:phenylalanine hydroxylase [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

12q23.2

Genomic location:

• Chr12: 102893268 - 102899867 (on Assembly GRCh38)
• Chr12: 103287046 - 103293645 (on Assembly GRCh37)

Preferred name:

NM_000277.3(PAH):c.169-4949_352+1467delinsGGCACCTG

HGVS:

• NC_000012.12:g.102893268_102899867delinsCAGGTGCC
• NG_008690.2:g.63544_70143delinsGGCACCTG
• NM_000277.3:c.169-4949_352+1467delinsGGCACCTGMANE SELECT
• NM_001354304.2:c.169-4949_352+1467delinsGGCACCTG
• NP_000268.1:p.Glu57Cysfs
• AF404777.1:g.45042_51644delinsGGCACCTG
• NC_000012.11:g.103287046_103293645delinsCAGGTGCC
• NG_008690.1:g.22736_29335delinsGGCACCTG
• NM_000277.1:c.169-4950_352+1467delinsGGCACCTG

This HGVS expression did not pass validation

Note:

A deletion resulting in loss of exon 3, found in Yemenite Jews. Breakpoints were established by MLPA analysis.

Nucleotide change:

EX3DEL

Links:

OMIM: 612349.0008

Molecular consequence:

• NM_000277.3:c.169-4949_352+1467delinsGGCACCTG - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001354304.2:c.169-4949_352+1467delinsGGCACCTG - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_000277.3:c.169-4949_352+1467delinsGGCACCTG - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001354304.2:c.169-4949_352+1467delinsGGCACCTG - splice donor variant - [Sequence Ontology: SO:0001575]