ClinVar

NM_000264.5(PTCH1):c.3405G>A (p.Leu1135=)

Gene:

PTCH1:patched 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q22.32

Genomic location:

• Chr9: 95453522 (on Assembly GRCh38)
• Chr9: 98215804 (on Assembly GRCh37)

Preferred name:

NM_000264.5(PTCH1):c.3405G>A (p.Leu1135=)

HGVS:

• NC_000009.12:g.95453522C>T
• NG_007664.1:g.68444G>A
• NM_000264.5:c.3405G>AMANE SELECT
• NM_001083602.3:c.3207G>A
• NM_001083603.3:c.3402G>A
• NM_001083604.3:c.2952G>A
• NM_001083605.3:c.2952G>A
• NM_001083606.3:c.2952G>A
• NM_001083607.3:c.2952G>A
• NM_001354918.2:c.3249G>A
• NP_000255.2:p.Leu1135=
• NP_000255.2:p.Leu1135=
• NP_001077071.1:p.Leu1069=
• NP_001077071.1:p.Leu1069=
• NP_001077072.1:p.Leu1134=
• NP_001077073.1:p.Leu984=
• NP_001077074.1:p.Leu984=
• NP_001077075.1:p.Leu984=
• NP_001077076.1:p.Leu984=
• NP_001341847.1:p.Leu1083=
• LRG_515t1:c.3405G>A
• LRG_515t2:c.3207G>A
• LRG_515:g.68444G>A
• LRG_515p1:p.Leu1135=
• LRG_515p2:p.Leu1069=
• NC_000009.11:g.98215804C>T
• NM_000264.3:c.3405G>A
• NM_001083602.1:c.3207G>A
• NR_149061.2:n.4144G>A

This HGVS expression did not pass validation

Molecular consequence:

• NR_149061.2:n.4144G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_000264.5:c.3405G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001083602.3:c.3207G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001083603.3:c.3402G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001083604.3:c.2952G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001083605.3:c.2952G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001083606.3:c.2952G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001083607.3:c.2952G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354918.2:c.3249G>A - synonymous variant - [Sequence Ontology: SO:0001819]