ClinVar

NM_000264.5(PTCH1):c.3395C>T (p.Ser1132Phe)

Gene:

PTCH1:patched 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q22.32

Genomic location:

• Chr9: 95453532 (on Assembly GRCh38)
• Chr9: 98215814 (on Assembly GRCh37)

Preferred name:

NM_000264.5(PTCH1):c.3395C>T (p.Ser1132Phe)

HGVS:

• NC_000009.12:g.95453532G>A
• NG_007664.1:g.68434C>T
• NM_000264.5:c.3395C>TMANE SELECT
• NM_001083602.3:c.3197C>T
• NM_001083603.3:c.3392C>T
• NM_001083604.3:c.2942C>T
• NM_001083605.3:c.2942C>T
• NM_001083606.3:c.2942C>T
• NM_001083607.3:c.2942C>T
• NM_001354918.2:c.3239C>T
• NP_000255.2:p.Ser1132Phe
• NP_001077071.1:p.Ser1066Phe
• NP_001077072.1:p.Ser1131Phe
• NP_001077073.1:p.Ser981Phe
• NP_001077074.1:p.Ser981Phe
• NP_001077075.1:p.Ser981Phe
• NP_001077076.1:p.Ser981Phe
• NP_001341847.1:p.Ser1080Phe
• LRG_515:g.68434C>T
• NC_000009.11:g.98215814G>A
• NR_149061.2:n.4134C>T

This HGVS expression did not pass validation

Protein change:

S1066F

Links:

dbSNP: rs1588528503

NCBI 1000 Genomes Browser:

rs1588528503

Molecular consequence:

• NM_000264.5:c.3395C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001083602.3:c.3197C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001083603.3:c.3392C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001083604.3:c.2942C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001083605.3:c.2942C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001083606.3:c.2942C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001083607.3:c.2942C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354918.2:c.3239C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_149061.2:n.4134C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

1