ClinVar

NM_015404.4(WHRN):c.2554G>A (p.Ala852Thr)

Gene:

WHRN:whirlin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q32

Genomic location:

• Chr9: 114402924 (on Assembly GRCh38)
• Chr9: 117165204 (on Assembly GRCh37)

Preferred name:

NM_015404.4(WHRN):c.2554G>A (p.Ala852Thr)

HGVS:

• NC_000009.12:g.114402924C>T
• NG_016700.1:g.107533G>A
• NM_001083885.3:c.1405G>A
• NM_001173425.2:c.2551G>A
• NM_001346890.1:c.1501G>A
• NM_015404.4:c.2554G>AMANE SELECT
• NP_001077354.2:p.Ala469Thr
• NP_001166896.1:p.Ala851Thr
• NP_001333819.1:p.Ala501Thr
• NP_056219.3:p.Ala852Thr
• LRG_1094t1:c.2554G>A
• LRG_1094:g.107533G>A
• LRG_1094p1:p.Ala852Thr
• NC_000009.11:g.117165204C>T
• NM_015404.3:c.2554G>A

This HGVS expression did not pass validation

Protein change:

A469T

Links:

dbSNP: rs762342970

NCBI 1000 Genomes Browser:

rs762342970

Molecular consequence:

• NM_001083885.3:c.1405G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001173425.2:c.2551G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001346890.1:c.1501G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_015404.4:c.2554G>A - missense variant - [Sequence Ontology: SO:0001583]