ClinVar

NM_000311.5(PRNP):c.228C>T (p.Pro76=)

Gene:

PRNP:prion protein (Kanno blood group) [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20p13

Genomic location:

• Chr20: 4699448 (on Assembly GRCh38)
• Chr20: 4680094 (on Assembly GRCh37)

Preferred name:

NM_000311.5(PRNP):c.228C>T (p.Pro76=)

HGVS:

• NC_000020.11:g.4699448C>T
• NG_009087.1:g.18298C>T
• NM_000311.5:c.228C>TMANE SELECT
• NM_001080121.3:c.228C>T
• NM_001080122.3:c.228C>T
• NM_001080123.3:c.228C>T
• NM_001271561.3:c.139C>T
• NM_183079.4:c.228C>T
• NP_000302.1:p.Pro76=
• NP_001073590.1:p.Pro76=
• NP_001073591.1:p.Pro76=
• NP_001073592.1:p.Pro76=
• NP_001258490.1:p.Pro47Ser
• NP_898902.1:p.Pro76=
• NC_000020.10:g.4680094C>T
• NM_000311.3:c.228C>T
• NM_001271561.1:c.139C>T

This HGVS expression did not pass validation

Protein change:

P47S

Links:

dbSNP: rs112637437

NCBI 1000 Genomes Browser:

rs112637437

Molecular consequence:

• NM_001271561.3:c.139C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_000311.5:c.228C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001080121.3:c.228C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001080122.3:c.228C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001080123.3:c.228C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_183079.4:c.228C>T - synonymous variant - [Sequence Ontology: SO:0001819]