ClinVar

NM_000264.5(PTCH1):c.3346G>C (p.Val1116Leu)

Gene:

PTCH1:patched 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q22.32

Genomic location:

• Chr9: 95453581 (on Assembly GRCh38)
• Chr9: 98215863 (on Assembly GRCh37)

Preferred name:

NM_000264.5(PTCH1):c.3346G>C (p.Val1116Leu)

HGVS:

• NC_000009.12:g.95453581C>G
• NG_007664.1:g.68385G>C
• NM_000264.5:c.3346G>CMANE SELECT
• NM_001083602.3:c.3148G>C
• NM_001083603.3:c.3343G>C
• NM_001083604.3:c.2893G>C
• NM_001083605.3:c.2893G>C
• NM_001083606.3:c.2893G>C
• NM_001083607.3:c.2893G>C
• NM_001354918.2:c.3190G>C
• NP_000255.2:p.Val1116Leu
• NP_000255.2:p.Val1116Leu
• NP_001077071.1:p.Val1050Leu
• NP_001077071.1:p.Val1050Leu
• NP_001077072.1:p.Val1115Leu
• NP_001077073.1:p.Val965Leu
• NP_001077074.1:p.Val965Leu
• NP_001077075.1:p.Val965Leu
• NP_001077076.1:p.Val965Leu
• NP_001341847.1:p.Val1064Leu
• LRG_515t1:c.3346G>C
• LRG_515t2:c.3148G>C
• LRG_515:g.68385G>C
• LRG_515p1:p.Val1116Leu
• LRG_515p2:p.Val1050Leu
• NC_000009.11:g.98215863C>G
• NM_000264.3:c.3346G>C
• NM_001083602.1:c.3148G>C
• NR_149061.2:n.4085G>C

This HGVS expression did not pass validation

Protein change:

V1050L

Molecular consequence:

• NM_000264.5:c.3346G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001083602.3:c.3148G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001083603.3:c.3343G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001083604.3:c.2893G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001083605.3:c.2893G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001083606.3:c.2893G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001083607.3:c.2893G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354918.2:c.3190G>C - missense variant - [Sequence Ontology: SO:0001583]
• NR_149061.2:n.4085G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]