ClinVar

NM_000264.5(PTCH1):c.3336C>T (p.Asn1112=)

Gene:

PTCH1:patched 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q22.32

Genomic location:

• Chr9: 95453591 (on Assembly GRCh38)
• Chr9: 98215873 (on Assembly GRCh37)

Preferred name:

NM_000264.5(PTCH1):c.3336C>T (p.Asn1112=)

HGVS:

• NC_000009.12:g.95453591G>A
• NG_007664.1:g.68375C>T
• NM_000264.5:c.3336C>TMANE SELECT
• NM_001083602.3:c.3138C>T
• NM_001083603.3:c.3333C>T
• NM_001083604.3:c.2883C>T
• NM_001083605.3:c.2883C>T
• NM_001083606.3:c.2883C>T
• NM_001083607.3:c.2883C>T
• NM_001354918.2:c.3180C>T
• NP_000255.2:p.Asn1112=
• NP_000255.2:p.Asn1112=
• NP_001077071.1:p.Asn1046=
• NP_001077071.1:p.Asn1046=
• NP_001077072.1:p.Asn1111=
• NP_001077073.1:p.Asn961=
• NP_001077074.1:p.Asn961=
• NP_001077075.1:p.Asn961=
• NP_001077076.1:p.Asn961=
• NP_001341847.1:p.Asn1060=
• LRG_515t1:c.3336C>T
• LRG_515t2:c.3138C>T
• LRG_515:g.68375C>T
• LRG_515p1:p.Asn1112=
• LRG_515p2:p.Asn1046=
• NC_000009.11:g.98215873G>A
• NM_000264.3:c.3336C>T
• NM_001083602.1:c.3138C>T
• NR_149061.2:n.4075C>T

This HGVS expression did not pass validation

Molecular consequence:

• NR_149061.2:n.4075C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_000264.5:c.3336C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001083602.3:c.3138C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001083603.3:c.3333C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001083604.3:c.2883C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001083605.3:c.2883C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001083606.3:c.2883C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001083607.3:c.2883C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354918.2:c.3180C>T - synonymous variant - [Sequence Ontology: SO:0001819]