ClinVar

NM_000264.5(PTCH1):c.3328G>A (p.Asp1110Asn)

Gene:

PTCH1:patched 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q22.32

Genomic location:

• Chr9: 95453599 (on Assembly GRCh38)
• Chr9: 98215881 (on Assembly GRCh37)

Preferred name:

NM_000264.5(PTCH1):c.3328G>A (p.Asp1110Asn)

HGVS:

• NC_000009.12:g.95453599C>T
• NG_007664.1:g.68367G>A
• NM_000264.5:c.3328G>AMANE SELECT
• NM_001083602.3:c.3130G>A
• NM_001083603.3:c.3325G>A
• NM_001083604.3:c.2875G>A
• NM_001083605.3:c.2875G>A
• NM_001083606.3:c.2875G>A
• NM_001083607.3:c.2875G>A
• NM_001354918.2:c.3172G>A
• NP_000255.2:p.Asp1110Asn
• NP_001077071.1:p.Asp1044Asn
• NP_001077072.1:p.Asp1109Asn
• NP_001077073.1:p.Asp959Asn
• NP_001077074.1:p.Asp959Asn
• NP_001077075.1:p.Asp959Asn
• NP_001077076.1:p.Asp959Asn
• NP_001341847.1:p.Asp1058Asn
• LRG_515t1:c.3328G>A
• LRG_515:g.68367G>A
• NC_000009.11:g.98215881C>T
• NM_000264.3:c.3328G>A
• NR_149061.2:n.4067G>A

This HGVS expression did not pass validation

Protein change:

D1044N

Links:

dbSNP: rs911494100

NCBI 1000 Genomes Browser:

rs911494100

Molecular consequence:

• NM_000264.5:c.3328G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001083602.3:c.3130G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001083603.3:c.3325G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001083604.3:c.2875G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001083605.3:c.2875G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001083606.3:c.2875G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001083607.3:c.2875G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354918.2:c.3172G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_149061.2:n.4067G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]