ClinVar

NM_001184880.2(PCDH19):c.3400A>C (p.Asn1134His)

Gene:

PCDH19:protocadherin 19 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq22.1

Genomic location:

• ChrX: 100296324 (on Assembly GRCh38)
• ChrX: 99551322 (on Assembly GRCh37)

Preferred name:

NM_001184880.2(PCDH19):c.3400A>C (p.Asn1134His)

HGVS:

• NC_000023.11:g.100296324T>G
• NG_021319.1:g.118950A>C
• NM_001105243.2:c.3259A>C
• NM_001184880.2:c.3400A>CMANE SELECT
• NM_020766.3:c.3256A>C
• NP_001098713.1:p.Asn1087His
• NP_001171809.1:p.Asn1134His
• NP_065817.2:p.Asn1086His
• LRG_843t1:c.3400A>C
• LRG_843:g.118950A>C
• LRG_843p1:p.Asn1134His
• NC_000023.10:g.99551322T>G
• NM_001184880.1:c.3400A>C
• Q8TAB3:p.Asn1134His

This HGVS expression did not pass validation

Protein change:

N1086H

Links:

UniProtKB: Q8TAB3#VAR_067489; dbSNP: rs141816797

NCBI 1000 Genomes Browser:

rs141816797

Molecular consequence:

• NM_001105243.2:c.3259A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001184880.2:c.3400A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_020766.3:c.3256A>C - missense variant - [Sequence Ontology: SO:0001583]