ClinVar

NM_000264.5(PTCH1):c.3388G>A (p.Ala1130Thr)

Gene:

PTCH1:patched 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q22.32

Genomic location:

• Chr9: 95453539 (on Assembly GRCh38)
• Chr9: 98215821 (on Assembly GRCh37)

Preferred name:

NM_000264.5(PTCH1):c.3388G>A (p.Ala1130Thr)

HGVS:

• NC_000009.12:g.95453539C>T
• NG_007664.1:g.68427G>A
• NM_000264.5:c.3388G>AMANE SELECT
• NM_001083602.3:c.3190G>A
• NM_001083603.3:c.3385G>A
• NM_001083604.3:c.2935G>A
• NM_001083605.3:c.2935G>A
• NM_001083606.3:c.2935G>A
• NM_001083607.3:c.2935G>A
• NM_001354918.2:c.3232G>A
• NP_000255.2:p.Ala1130Thr
• NP_001077071.1:p.Ala1064Thr
• NP_001077072.1:p.Ala1129Thr
• NP_001077073.1:p.Ala979Thr
• NP_001077074.1:p.Ala979Thr
• NP_001077075.1:p.Ala979Thr
• NP_001077076.1:p.Ala979Thr
• NP_001341847.1:p.Ala1078Thr
• LRG_515t1:c.3388G>A
• LRG_515:g.68427G>A
• NC_000009.11:g.98215821C>T
• NM_000264.3:c.3388G>A
• NR_149061.2:n.4127G>A

This HGVS expression did not pass validation

Protein change:

A1064T

Links:

dbSNP: rs766037357

NCBI 1000 Genomes Browser:

rs766037357

Molecular consequence:

• NM_000264.5:c.3388G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001083602.3:c.3190G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001083603.3:c.3385G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001083604.3:c.2935G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001083605.3:c.2935G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001083606.3:c.2935G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001083607.3:c.2935G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354918.2:c.3232G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_149061.2:n.4127G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]