ClinVar

NM_000264.5(PTCH1):c.3358G>A (p.Glu1120Lys)

Gene:

PTCH1:patched 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q22.32

Genomic location:

• Chr9: 95453569 (on Assembly GRCh38)
• Chr9: 98215851 (on Assembly GRCh37)

Preferred name:

NM_000264.5(PTCH1):c.3358G>A (p.Glu1120Lys)

HGVS:

• NC_000009.12:g.95453569C>T
• NG_007664.1:g.68397G>A
• NM_000264.5:c.3358G>AMANE SELECT
• NM_001083602.3:c.3160G>A
• NM_001083603.3:c.3355G>A
• NM_001083604.3:c.2905G>A
• NM_001083605.3:c.2905G>A
• NM_001083606.3:c.2905G>A
• NM_001083607.3:c.2905G>A
• NM_001354918.2:c.3202G>A
• NP_000255.2:p.Glu1120Lys
• NP_001077071.1:p.Glu1054Lys
• NP_001077072.1:p.Glu1119Lys
• NP_001077073.1:p.Glu969Lys
• NP_001077074.1:p.Glu969Lys
• NP_001077075.1:p.Glu969Lys
• NP_001077076.1:p.Glu969Lys
• NP_001341847.1:p.Glu1068Lys
• LRG_515t1:c.3358G>A
• LRG_515:g.68397G>A
• NC_000009.11:g.98215851C>T
• NM_000264.3:c.3358G>A
• NR_149061.2:n.4097G>A

This HGVS expression did not pass validation

Protein change:

E1054K

Links:

dbSNP: rs1838662287

NCBI 1000 Genomes Browser:

rs1838662287

Molecular consequence:

• NM_000264.5:c.3358G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001083602.3:c.3160G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001083603.3:c.3355G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001083604.3:c.2905G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001083605.3:c.2905G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001083606.3:c.2905G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001083607.3:c.2905G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354918.2:c.3202G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_149061.2:n.4097G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]