ClinVar

NM_024598.4(USB1):c.623A>G (p.His208Arg)

Gene:

USB1:U6 snRNA biogenesis phosphodiesterase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q21

Genomic location:

• Chr16: 58018985 (on Assembly GRCh38)
• Chr16: 58052889 (on Assembly GRCh37)

Preferred name:

NM_024598.4(USB1):c.623A>G (p.His208Arg)

HGVS:

• NC_000016.10:g.58018985A>G
• NG_027698.1:g.22613A>G
• NM_001195302.2:c.569A>G
• NM_001330568.2:c.470A>G
• NM_024598.4:c.623A>GMANE SELECT
• NP_001182231.1:p.His190Arg
• NP_001317497.1:p.His157Arg
• NP_078874.2:p.(His208Arg)
• NP_078874.2:p.His208Arg
• NP_078874.2:p.His208Arg
• LRG_352t1:c.623A>G
• LRG_352t1:c.623A>G
• LRG_352:g.22613A>G
• LRG_352p1:p.(His208Arg)
• LRG_352p1:p.His208Arg
• NC_000016.9:g.58052889A>G
• NM_024598.3:c.623A>G

This HGVS expression did not pass validation

Protein change:

H157R

Links:

dbSNP: rs1249059283

NCBI 1000 Genomes Browser:

rs1249059283

Molecular consequence:

• NM_001195302.2:c.569A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001330568.2:c.470A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_024598.4:c.623A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

2